Details for: ABCA13

Gene ID: 154664

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ABCA13

Ensembl ID: ENSG00000179869

Description: ATP binding cassette subfamily A member 13

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • secretory cell CL0000151
    CSI 11.57
    rCSI 12.08%
    PRS 96.8
  • goblet cell CL0000160
    CSI 8.62
    rCSI 8.14%
    PRS 96.16
  • multi-ciliated epithelial cell CL0005012
    CSI 7.04
    rCSI 7.03%
    PRS 94.41
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 4.86
    rCSI 6.89%
    PRS 96.45
  • mucus secreting cell CL0000319
    CSI 4.63
    rCSI 7.35%
    PRS 98.65
  • nasal mucosa goblet cell CL0002480
    CSI 4.55
    rCSI 5.27%
    PRS 96.65
  • ciliated cell CL0000064
    CSI 4.49
    rCSI 7.27%
    PRS 93.5
  • tracheal goblet cell CL1000329
    CSI 3.88
    rCSI 8.48%
    PRS 97.65
  • ionocyte CL0005006
    CSI 3.63
    rCSI 3.89%
    PRS 97.73
  • duct epithelial cell CL0000068
    CSI 3.4
    rCSI 4.98%
    PRS 98.53
  • club cell CL0000158
    CSI 3.18
    rCSI 4.66%
    PRS 95.92
  • lung ciliated cell CL1000271
    CSI 2.85
    rCSI 3.3%
    PRS 94.56
  • respiratory suprabasal cell CL4033048
    CSI 2.61
    rCSI 3.35%
    PRS 97.82
  • ciliated epithelial cell CL0000067
    CSI 2.55
    rCSI 2.24%
    PRS 92.9
  • basal cell of epidermis CL0002187
    CSI 2.39
    rCSI 4.23%
    PRS 77.59
  • respiratory basal cell CL0002633
    CSI 2.33
    rCSI 2.42%
    PRS 97.79
  • bronchial goblet cell CL1000312
    CSI 1.84
    rCSI 7.34%
    PRS 98.48
  • squamous epithelial cell CL0000076
    CSI 1.79
    rCSI 4.24%
    PRS 94.2
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.65
    rCSI 4.28%
    PRS 96.29
  • melanocyte of skin CL1000458
    CSI 1.64
    rCSI 2.23%
    PRS 78.61
  • neutrophil CL0000775
    CSI 1.48
    rCSI 8.3%
    PRS 94.95
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.19
    rCSI 2.7%
    PRS 92.89
  • deuterosomal cell CL4033044
    CSI 1.08
    rCSI 3.65%
    PRS 93.45
  • respiratory goblet cell CL0002370
    CSI 1.04
    rCSI 11.32%
    PRS 98.28
  • myelocyte CL0002193
    CSI 0.83
    rCSI 5.44%
    PRS 98.73
  • basal cell of epithelium of trachea CL1000348
    CSI 0.76
    rCSI 5.35%
    PRS 97.09
  • tracheobronchial serous cell CL0019001
    CSI 0.68
    rCSI 2.95%
    PRS 97.81

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ABCA13](/details-gene/154664) (ATP binding cassette subfamily A member 13) is a large protein-coding gene located on chromosome 7p12.3 that encodes a member of the ABC transporter superfamily ([Link](https://doi.org/10.1159/000069852)). Functionally, [ABCA13](/details-gene/154664) is an ATP-dependent lipid transporter involved in processes such as ceramide and cholesterol transport. **Overall**, its expression is most significant in various types of secretory and epithelial cells, including [secretory cell](/details-cell/CL0000151)s, [goblet cell](/details-cell/CL0000160)s, and [multi-ciliated epithelial cell](/details-cell/CL0005012)s, suggesting a crucial role in maintaining mucosal barriers and glandular function. Recent studies have also implicated dysfunction of [ABCA13](/details-gene/154664) in the pathophysiology of psychiatric disorders through impaired cholesterol trafficking ([Link](https://doi.org/10.1074/jbc.ra120.015997)). ## Cellular Roles and Expression Landscape The expression profile of [ABCA13](/details-gene/154664) highlights its prominent role in specialized epithelial and secretory cell populations. **Overall**, the gene shows the highest significance in [secretory cell](/details-cell/CL0000151) (CSI: 11.57), [goblet cell](/details-cell/CL0000160) (CSI: 8.62), and [multi-ciliated epithelial cell](/details-cell/CL0005012) (CSI: 7.04). This strong association extends to functionally related cell types such as [mucus secreting cell](/details-cell/CL0000319), [tracheal goblet cell](/details-cell/CL1000329), and [lung ciliated cell](/details-cell/CL1000271). This pattern strongly suggests that [ABCA13](/details-gene/154664) is a key functional component of mucosal surfaces, particularly within the respiratory and gastrointestinal tracts, where it likely contributes to the secretion and maintenance of the protective mucus layer. Its significance in cells like [kidney loop of Henle thin descending limb epithelial cell](/details-cell/CL1001111) and [ionocyte](/details-cell/CL0005006) also points towards a broader role in epithelial transport processes. ## Pathways and Molecular Function The functions of [ABCA13](/details-gene/154664) are primarily centered on transmembrane transport, driven by ATP hydrolysis. According to Gene Ontology annotations, its molecular functions include [Abc-type transporter activity](/details-cell/GO:0140359), [lipid transporter activity](/details-cell/GO:0005319), and [Atp binding](/details-cell/GO:0005524). These activities support biological processes such as [lipid transport](/details-cell/GO:0006869), specifically [ceramide transport](/details-cell/GO:0035627) and the [positive regulation of cholesterol transport](/details-cell/GO:0032376). This is consistent with its high expression in secretory cells, which require robust lipid trafficking for vesicle formation and secretion. Cellularly, the protein is localized to the [plasma membrane](/details-cell/GO:0005886) and various intracellular vesicles, including the [azurophil granule membrane](/details-cell/GO:0035577) and [secretory granule membrane](/details-cell/GO:0030667). Its involvement in the [neutrophil degranulation](/details-pathway/R-HSA-6798695) pathway, part of the [innate immune system](/details-pathway/R-HSA-168249), further supports a role in specialized secretory functions within immune contexts, even if neutrophils are not among its top expressing cell types in the **Overall** context. Additionally, its annotation for [positive regulation of synaptic vesicle endocytosis](/details-cell/GO:1900244) provides a mechanistic link to its observed role in neurological function. ## Research Directions The available data suggests that [ABCA13](/details-gene/154664) is a multifaceted transporter with key roles in both epithelial barrier function and neurological homeostasis. Future research should focus on elucidating the specific mechanisms and pathological consequences of its dysregulation. ### Proposed Hypotheses 1. **Hypothesis 1:** Given its high expression in [goblet cell](/details-cell/CL0000160)s and its role as a lipid transporter, [ABCA13](/details-gene/154664) is essential for the proper packaging and secretion of mucins. Its dysfunction may lead to altered mucus viscosity and composition, contributing to the pathology of respiratory diseases characterized by mucus obstruction, such as asthma or chronic obstructive pulmonary disease (COPD). 2. **Hypothesis 2:** Based on its connection to psychiatric disorders and its annotated role in synaptic vesicle cycling ([Link](https://doi.org/10.1074/jbc.ra120.015997)), loss-of-function variants in [ABCA13](/details-gene/154664) in specific neuronal or glial subtypes may disrupt local cholesterol homeostasis at the synapse, impairing neurotransmitter release and contributing to disease phenotypes. ### Key Experiment To test Hypothesis 1, a robust experimental approach would involve using an *in vitro* air-liquid interface (ALI) culture system with primary human bronchial epithelial cells. [ABCA13](/details-gene/154664) expression could be knocked down using shRNA. The resulting impact on mucus production could be assessed by quantifying the secretion of major mucin proteins (e.g., MUC5AC and MUC5B) via ELISA and visualizing goblet cell morphology using immunofluorescence. Furthermore, lipidomic analysis of the secreted mucus layer could directly determine if the transport of specific lipid species is impaired, providing a direct mechanistic link between [ABCA13](/details-gene/154664) function and mucus composition. ### Therapeutic Potential The association of [ABCA13](/details-gene/154664) dysfunction with psychiatric disorders suggests it may be a viable therapeutic target. Since the pathology appears related to *impaired* cholesterol trafficking ([Link](https://doi.org/10.1074/jbc.ra120.015997)), a therapeutic strategy would likely focus on activation or functional restoration rather than inhibition. This could involve small molecule activators or chaperones that promote correct protein folding and trafficking to the plasma membrane. However, its widespread expression in critical epithelial barriers throughout the body poses a significant challenge, as systemic administration of a modulator could lead to unintended off-target effects in respiratory, digestive, or renal systems. Therefore, targeted delivery methods would be essential for any potential therapeutic development.

Genular Protein ID: 2218345668

Symbol: ABCAD_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12697998

Title: The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon.

PubMed ID: 12697998

DOI: 10.1159/000069852

PubMed ID: 23266639

Title: Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13.

PubMed ID: 23266639

DOI: 10.1016/j.gene.2012.11.072

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 33478937

Title: ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.

PubMed ID: 33478937

DOI: 10.1074/jbc.ra120.015997

Sequence Information:

  • Length: 5058
  • Mass: 576159
  • Checksum: B7F03D10101551E4
  • Sequence:
  • MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR YRDICYLQPR 
    DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF QTAADPKKVN NLAFLKEIQD 
    LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY GSSFFTMDLN KTEEVILKLE SLHQQPHIWD 
    FLLLLPRLHT SHDHVEDGMD VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI 
    STLTFLQQHG VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI 
    PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR VYQQVFVQWQ 
    QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL LLLNDSLSAD GPKDNHTFPK 
    ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA LRNAIAQNLH FVQEVLICLE TSANDFKWFE 
    LNQLKLEKDV FFWELKQMLA KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET 
    SVLNKLLGSV EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG 
    ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT CEVAQYVNMQ 
    ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS PTASISRALN FTKHLLMMEK 
    KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD SSIVPSFHSL PSLTEDILNI SSLWTNHLKS 
    LKRDPSATDA QKLLEFGNEV IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY 
    GISKGKRAKL ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT 
    SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL NVFQDKDSAL 
    LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK QFNFQNISKA FAFLFKTAEV 
    LGGISNVSYC QQLLSIFNFL ELQAQSFMST EGQELEVIHT TLTGLKQLLI IDEDFRISLF 
    QYMSQFFNSS VEDLLDNKCL ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK 
    FMSIHCTVSW LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL 
    PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL EQVEKSLFTM 
    EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR NLDSINDFLS NNLTNYGEKF 
    ENIITELREA IVFLRNVSHD RDLFSCADIF QNVTECILED GFLYVNTSQR MLRILDTLNS 
    TFSSENTISS LKGCIVWLDV INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW 
    VLNIKKPLCS SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV 
    RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL GKEFQKLVKG 
    IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL ASYLAFSLSH DLQNSPKIII 
    SPEIMKATGL GIQLIRDVFN SLMPVVHHTS PQNAGYMQAL KKVTSVMRTL KKADIDLLVD 
    QLEQVSVNLM DFFKNISSVG TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV 
    DAVIDVYYVL PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD 
    TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS FYGKVASILD 
    HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL LELSEVFHVN ISLVKTVQKF 
    WHKILPFVPP SINQTRDSIS ELCPSGSIKQ VALQIIEKLK NVNFTKVTSG ENILDKLSSL 
    NKILNINEDT ETSVQNIISS NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE 
    ALSSFIEKSE TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ 
    FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT NESSTEDIAL 
    LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV VQLLFENILI NLINNLAGNS 
    QEAAWNLNDT DLQIMNFINL ILNHMQSETS RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS 
    ENKISLLLKY FHKDVIAEMS FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM 
    KSSFILDNGE FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE 
    DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL ANLTDLLFFI 
    NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG TLVMLLNDSA DLRDLATSMD 
    SIVKLLKLVK KVSGKMSTVF KTHFISNTKD SVKFFDTLYS IMQQSVQNLV KEIATLKKID 
    HFTFEKINDL LVPFLDLAFE MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE 
    FLTSVKMNLE DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS 
    THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL KKDNWNVSNV 
    LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD TPLSQNITHH QLEKAIHNVL 
    SRIALWRKGL LFNNSEWITS TRTLFQPLFE IFIKATTGKN VTSEKEERTK KEMIDFPYSF 
    KPFFCLEKYL GGLFVLTKYW QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV 
    LTIVAENPSW TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE 
    SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS SGNPIMTFLS 
    NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE ANISHSKVLF SALTVALSGK 
    CDQEILHLLL TFPKGEKSWI AAEELCSLPG SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN 
    GLLNSLLDIV SSLSALLAKA QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG 
    SFQFVMKMVC KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL 
    PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET LLEMSSLFQR 
    SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT YGGLLDEMFN HAGAGRFRFL 
    GSILVNLSSC VALNRFQALQ SVDILETKAH ELLQQNSFLA SIIFSNSLFD KNFRSESVKL 
    PPHVSYTIRT NVLYSVRTDV VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT 
    GQEALEPAAQ TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE 
    EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV FLFLLDFGMS 
    VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH NQLSFVNQTF LCLLSTTAFG 
    QGVFFITFLE GQETGIQWNN MYQALEQGGM TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT 
    FGLRKPWYFP FTASYWKSVG FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP 
    GVTLVSVTKE YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII 
    INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK ELHQQVNQTL 
    QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD EPTSGVDPCS RHSLWDILLK 
    YREGRTIIFT THHLDEAEAL SDRVAVLQHG RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL 
    EAHDLKDMAC VTSLIKIYIP QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH 
    LTGYGISDTT LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG 
    VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA TEYPPLRLTP 
    GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP RQKNSSCWRT DPFSHPEFQD 
    SCGCLKCPNR SASAPYLTNH LGHTLLNLSG FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG 
    GANGNISKPP TLAKVWYNQK GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG 
    GALLNKDKIL ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW 
    FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT LPWMYLMSRI 
    FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN LQNIYDVLKW VFTIFPQFCL 
    GQGLVELCYN QIKYDLTHNF GIDSYVSPFE MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL 
    RWPRGHSTLQ GTVKSSKDTD VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI 
    SLGIPKGECF GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI 
    GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA DKPVATYSGG 
    TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM KEVREGCAAV LTSHSMEECE 
    ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF 
    KGQHLNLLEY HVPKRWGCLA DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL 
    QSTLDPSTDS HHTHHLPI

Genular Protein ID: 761720946

Symbol: A0A0A0MT16_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 5058
  • Mass: 576160
  • Checksum: 912B52FAB669A40B
  • Sequence:
  • MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR YRDICYLQPR 
    DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF QTAADPKKVN NLAFLKEIQD 
    LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY GSSFFTMDLN KTEEVILKLE SLHQQPHIWD 
    FLLLLPRLHT SHDHVEDGMD VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI 
    STLTFLQQHG VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI 
    PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR VYQQVFVQWQ 
    QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL LLLNDSLSAD GPKDNHTFPK 
    ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA LRNAIAQNLH FVQEVLICLE TSANDFKWFE 
    LNQLKLEKDV FFWELKQMLA KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET 
    SVLNKLLGSV EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG 
    ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT CEVAQYVNMQ 
    ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS PTASISRALN FTKHLLMMEK 
    KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD SSIVPSFHSL PSLTEDILNI SSLWTNHLKS 
    LKRDPSATDA QKLLEFGNEV IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY 
    GISKGKRAKL ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT 
    SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL NVFQDKDSAL 
    LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK QFNFQNISKA FAFLFKTAEV 
    LGGISNVSYC QQLLSIFNFL ELQAQSFMST EGQELEVIHT TLTGLKQLLI IDEDFRISLF 
    QYMSQFFNSS VEDLLDNKCL ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK 
    FMSIHCTVSW LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL 
    PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL EQVEKSLFTM 
    EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR NLDSINDFLS NNLTNYGEKF 
    ENIITELREA IVFLRNVSHD RDLFSCADIF QNVTECILED GFLYVNTSQR MLRILDTLNS 
    TFSSENTISS LKGCIVWLDV INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW 
    VLNIKKPLCS SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV 
    RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL GKEFQKLVKG 
    IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL ASYLAFSLSH DLQNSPKIII 
    SPEIMKATGL GIQLIRDVFN SLMPVVHHTS PQNAGYMQAL KKVTSVMRTL KKADIDLLVD 
    QLEQVSVNLM DFFKNISSVG TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV 
    DAVIDVYYVL PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD 
    TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS FYGKVASILD 
    HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL LELSEVFHVN ISLVKTVQKF 
    WHKILPFVPP SINQTRDSIS ELCPSGSIKQ VALQIIEKLK NVNFTKVTSG ENILDKLSSL 
    NKILNINEDT ETSVQNIISS NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE 
    ALSSFIEKSE TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ 
    FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT NESSTEDIAL 
    LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV VQLLFENILI NLINNLAGNS 
    QEAAWNLNDT DLQIMNFINL ILNHMQSETS RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS 
    ENKISLLLKY FHKDVIAEMS FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM 
    KSSFILDNGE FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE 
    DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL ANLTDLLFFI 
    NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG TLVMLLNDSA DLRDLATSMD 
    SIVKLLKLVK KVSGKMSTVF KTHFISNTKD SVKFFDTLYS IMQQSVQNLV KEIATLKKID 
    HFTFEKINDL LVPFLDLAFE MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE 
    FLTSVKMNLE DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS 
    THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL KKDNWNVSNV 
    LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD TPLSQNITHH QLEKAIHNVL 
    SRIALWRKGL LFNNSEWITS TRTLFQPLFE IFIKATTGKN VTSEKEERTK KEMIDFPYSF 
    KPFFCLEKYL GGLFVLTKYW QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV 
    LTIVAENPSW TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE 
    SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS SGNPIMTFLS 
    NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE ANISHSKVLF SALTVALSGK 
    CDQEILHLLL TFPKGEKSWI AAEELCSLPG SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN 
    GLLNSLLDIV SSLSALLAKA QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG 
    SFQFVMKMVC KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL 
    PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET LLEMSSLFQR 
    SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT YGGLLDEMFN HAGAGRFRFL 
    GSILVNLSSC VALNRFQALQ SVDILETKAH ELLQQNSFLA SIIFSNSLFD KNFRSESVKL 
    PPHVSYTIRT NVLYSVRTDV VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT 
    GQEALEPAAQ TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE 
    EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV FLFLLDFGMS 
    VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH NQLSFVNQTF LCLLSTTAFG 
    QGVFFITFLE GQETGIQWNN MYQALEQGGM TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT 
    FGLRKPWYFP FTASYWKSVG FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP 
    GVTLVSVTKE YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII 
    INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK ELHQQVNQTL 
    QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD EPTSGVDPCS RHSLWDILLK 
    YREGRTIIFT THHLDEAEAL SDRVAVLQHG RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL 
    EAHDLKDMAC VTSLIKIYIP QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH 
    LTGYGISDTT LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG 
    VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA TEYPPLRLTP 
    GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP RQKNSSCWRT DPFSHPEFQD 
    SCGCLKCPNR SASAPYLTNH LGHTLLNLSG FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG 
    GANGNISKPP TLAKVWYNQK GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG 
    GALLNEDKIL ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW 
    FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT LPWMYLMSRI 
    FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN LQNIYDVLKW VFTIFPQFCL 
    GQGLVELCYN QIKYDLTHNF GIDSYVSPFE MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL 
    RWPRGHSTLQ GTVKSSKDTD VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI 
    SLGIPKGECF GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI 
    GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA DKPVATYSGG 
    TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM KEVREGCAAV LTSHSMEECE 
    ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF 
    KGQHLNLLEY HVPKRWGCLA DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL 
    QSTLDPSTDS HHTHHLPI