Details for: ABCB7

Gene ID: 22

Symbol: ABCB7

Ensembl ID: ENSG00000131269

Description: ATP binding cassette subfamily B member 7

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.92
    Marker Score: 42809
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.89
    Marker Score: 2536
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.58
    Marker Score: 5602
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.54
    Marker Score: 1234
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.53
    Marker Score: 1852
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.4
    Marker Score: 1551
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.35
    Marker Score: 791
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.32
    Marker Score: 2906
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.28
    Marker Score: 78695.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.28
    Marker Score: 27244.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.27
    Marker Score: 10935.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.26
    Marker Score: 1944
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.2
    Marker Score: 11395.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.18
    Marker Score: 1703
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.18
    Marker Score: 11131.5
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.17
    Marker Score: 1457
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.16
    Marker Score: 4827
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.16
    Marker Score: 42810
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.1
    Marker Score: 41957
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.1
    Marker Score: 4483
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.07
    Marker Score: 11052.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.06
    Marker Score: 15869
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.06
    Marker Score: 618
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.05
    Marker Score: 1205
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.04
    Marker Score: 516
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.04
    Marker Score: 4336.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.03
    Marker Score: 20433
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1
    Marker Score: 418
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71691
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47916
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.99
    Marker Score: 7625.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.99
    Marker Score: 759
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.98
    Marker Score: 667
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.98
    Marker Score: 984
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.96
    Marker Score: 3697
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.95
    Marker Score: 500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2397
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.94
    Marker Score: 2361
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.93
    Marker Score: 1171.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.92
    Marker Score: 321
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.91
    Marker Score: 2486
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.91
    Marker Score: 266
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2700
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.9
    Marker Score: 445
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.89
    Marker Score: 955
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.87
    Marker Score: 421
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.86
    Marker Score: 759
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.85
    Marker Score: 473.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4807
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.84
    Marker Score: 267
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.84
    Marker Score: 1366
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.84
    Marker Score: 13141.5
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.83
    Marker Score: 1173
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.82
    Marker Score: 1450
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.82
    Marker Score: 1426
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.81
    Marker Score: 482
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 321
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.8
    Marker Score: 1539
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.8
    Marker Score: 1129.5
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.8
    Marker Score: 958
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8
    Marker Score: 901
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.79
    Marker Score: 837
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.79
    Marker Score: 276
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.78
    Marker Score: 413
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.78
    Marker Score: 7893.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.78
    Marker Score: 531
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 593
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.77
    Marker Score: 4980
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.77
    Marker Score: 190
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.77
    Marker Score: 903
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.76
    Marker Score: 240
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.76
    Marker Score: 568
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.75
    Marker Score: 524
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.75
    Marker Score: 242
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.75
    Marker Score: 191
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.75
    Marker Score: 474
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.74
    Marker Score: 203
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.74
    Marker Score: 2011
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.73
    Marker Score: 265.5
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.73
    Marker Score: 274
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.73
    Marker Score: 3156.5
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.73
    Marker Score: 210
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.73
    Marker Score: 767
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.73
    Marker Score: 351
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.72
    Marker Score: 692
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3006
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.71
    Marker Score: 289
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.71
    Marker Score: 882
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.71
    Marker Score: 918
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.71
    Marker Score: 262
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.71
    Marker Score: 512.5
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.7
    Marker Score: 239
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.7
    Marker Score: 243

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Other Information

**Key characteristics:** - ABCB7 is a type of ATP-binding cassette protein, which are a family of proteins that are involved in the transport of molecules between the cytosol and the extracellular environment. - ABCB7 is expressed in a variety of cell types, including cardiac myocytes, lens epithelial cells, and immune cells. - ABCB7 is a key regulator of heme biosynthetic process, as it is involved in the transport of iron ions between the cytosol and the mitochondria. - ABCB7 is also involved in the transport of small molecules between the cytosol and the extracellular environment. **Pathways and functions:** - ABCB7 is involved in the Abc-family proteins mediated transport pathway, which is responsible for the transport of molecules between the cytosol and the extracellular environment. - ABCB7 is also involved in the Abc-type iron-sulfur cluster transporter activity, which is responsible for the transport of iron ions between the cytosol and the mitochondria. - ABCB7 is also involved in the ATP-coupled transmembrane transporter activity, which is responsible for the transport of molecules between the cytosol and the extracellular environment. **Clinical significance:** - ABCB7 gene mutations have been linked to a number of human diseases, including sickle cell disease, beta-thalassemia, and hereditary spherocytosis. - Targeting ABCB7 has been shown to be a potential therapeutic strategy for these diseases.

Genular Protein ID: 3165009232

Symbol: ABCB7_HUMAN

Name: ATP-binding cassette transporter 7

UniProtKB Accession Codes:

O75027 G3XAC4 O75345 Q5VWY7 Q5VWY8 Q9BRE1 Q9UND1 Q9UP01

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEBI 11 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 25 EMDB 1 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 2 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 5 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9621516

Title: Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.

PubMed ID: 9621516

DOI: 10.1007/s100380050051

PubMed ID: 10196363

Title: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

PubMed ID: 10196363

DOI: 10.1093/hmg/8.5.743

PubMed ID: 11050011

Title: Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

PubMed ID: 11050011

PubMed ID: 9653160

Title: Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.

PubMed ID: 9653160

DOI: 10.1073/pnas.95.14.8175

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9883897

Title: Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.

PubMed ID: 9883897

DOI: 10.1016/s0014-5793(98)01560-9

PubMed ID: 17192393

Title: RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.

PubMed ID: 17192393

DOI: 10.1182/blood-2006-08-041632

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25063848

Title: PAAT, a novel ATPase and trans-regulator of mitochondrial ABC transporters, is critically involved in the maintenance of mitochondrial homeostasis.

PubMed ID: 25063848

DOI: 10.1096/fj.14-254045

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30765471

Title: Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.

PubMed ID: 30765471

DOI: 10.3324/haematol.2018.214320

PubMed ID: 33157103

Title: Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

PubMed ID: 33157103

DOI: 10.1016/j.abb.2020.108661

PubMed ID: 11843825

Title: X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

PubMed ID: 11843825

DOI: 10.1046/j.1365-2141.2001.03015.x

PubMed ID: 22398176

Title: X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.

PubMed ID: 22398176

DOI: 10.1016/j.ejpn.2012.02.003

Sequence Information:

  • Length: 752
  • Mass: 82641
  • Checksum: B1FFA57ABD24FB90
  • Sequence:
    • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQIPES 
LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA GGGLHTDPKE GLKDVDTRKI 
IKAMLSYVWP KDRPDLRARV AISLGFLGGA KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD 
APNTVATMAT AVLIGYGVSR AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF 
HLSRQTGALS KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT 
LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER YEAQRYDGFL 
KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI VAGTLTVGDL VMVNGLLFQL 
SLPLNFLGTV YRETRQALID MNTLFTLLKV DTQIKDKVMA SPLQITPQTA TVAFDNVHFE 
YIEGQKVLSG ISFEVPAGKK VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS 
LESLRRAVGV VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT 
QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA MKDVVKHRTS 
IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI YSEMWHTQSS RVQNHDNPKW 
EAKKENISKE EERKKLQEEI VNSVKGCGNC SC

Genular Protein ID: 2345728475

Symbol: A0A087WW65_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WW65

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 7 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PeptideAtlas 1 Pfam 2 Proteomes 2 RefSeq 1 Rhea 2 SAM 1 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 713
  • Mass: 78288
  • Checksum: D7D9854F432DDB96
  • Sequence:
    • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQQIPE 
SLKSITWQRL GKGNSGQFLD AAKALQVWPL IEKRTCWHGH AGGGLHTDPK EGAMNIVVPF 
MFKYAVDSLN QMSGNMLNLS DAPNTVATMA TAVLIGYGVS RAGAAFFNEV RNAVFGKVAQ 
NSIRRIAKNV FLHLHNLDLG FHLSRQTGAL SKAIDRGTRG ISFVLSALVF NLLPIMFEVM 
LVSGVLYYKC GAQFALVTLG TLGTYTAFTV AVTRWRTRFR IEMNKADNDA GNAAIDSLLN 
YETVKYFNNE RYEAQRYDGF LKTYETASLK STSTLAMLNF GQSAIFSVGL TAIMVLASQG 
IVAGTLTVGD LVMVNGLLFQ LSLPLNFLGT VYRETRQALI DMNTLFTLLK VDTQIKDKVM 
ASPLQITPQT ATVAFDNVHF EYIEGQKVLS GISFEVPAGK KVAIVGGSGS GKSTIVRLLF 
RFYEPQKGSI YLAGQNIQDV SLESLRRAVG VVPQDAVLFH NTIYYNLLYG NISASPEEVY 
AVAKLAGLHD AILRMPHGYD TQVGERGLKL SGGEKQRVAI ARAILKDPPV ILYDEATSSL 
DSITEETILG AMKDVVKHRT SIFIAHRLST VVDADEIIVL DQGKVAERGT HHGLLANPHS 
IYSEMWHTQS SRVQNHDNPK WEAKKENISK EEERKKLQEE IVNSVKGCGN CSC

Genular Protein ID: 2192703443

Symbol: A0A0S2Z2Z3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z2Z3

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DNASU 1 EMBL 4 ExpressionAtlas 1 GO 4 Gene3D 2 GenomeRNAi 1 IntAct 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 Pfam 2 RefSeq 1 Rhea 2 SAM 1 SMART 1 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 753
  • Mass: 82769
  • Checksum: 9B96042C55C3C62F
  • Sequence:
    • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQQIPE 
SLKSITWQRL GKGNSGQFLD AAKALQVWPL IEKRTCWHGH AGGGLHTDPK EGLKDVDTRK 
IIKAMLSYVW PKDRPDLRAR VAISLGFLGG AKAMNIVVPF MFKYAVDSLN QMSGNMLNLS 
DAPNTVATMA TAVLIGYGVS RAGAAFFNEV RNAVFGKVAQ NSIRRIAKNV FLHLHNLDLG 
FHLSRQTGAL SKAIDRGTRG ISFVLSALVF NLLPIMFEVM LVSGVLYYKC GAQFALVTLG 
TLGTYTAFTV AVTRWRTRFR IEMNKADNDA GNAAIDSLLN YETVKYFNNE RYEAQRYDGF 
LKTYETASLK STSTLAMLNF GQSAIFSVGL TAIMVLASQG IVAGTLTVGD LVMVNGLLFQ 
LSLPLNFLGT VYRETRQALI DMNTLFTLLK VDTQIKDKVM ASPLQITPQT ATVAFDNVHF 
EYIEGQKVLS GISFEVPAGK KVAIVGGSGS GKSTIVRLLF RFYEPQKGSI YLAGQNIQDV 
SLESLRRAVG VVPQDAVLFH NTIYYNLLYG NISASPEEVY AVAKLAGLHD AILRMPHGYD 
TQVGERGLKL SGGEKQRVAI ARAILKDPPV ILYDEATSSL DSITEETILG AMKDVVKHRT 
SIFIAHRLST VVDADEIIVL DQGKVAERGT HHGLLANPHS IYSEMWHTQS SRVQNHDNPK 
WEAKKENISK EEERKKLQEE IVNSVKGCGN CSC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.