AP1B1 | ENSG00000100280 | NCBI 162

Details for: AP1B1

Gene ID: 162

Symbol: AP1B1

Ensembl ID: ENSG00000100280

Description: adaptor related protein complex 1 subunit beta 1

Associated with

Adaptive immune system
(R-HSA-1280218)
Disease
(R-HSA-1643685)
Golgi associated vesicle biogenesis
(R-HSA-432722)
Hiv infection
(R-HSA-162906)
Host interactions of hiv factors
(R-HSA-162909)
Immune system
(R-HSA-168256)
Infectious disease
(R-HSA-5663205)
Lysosome vesicle biogenesis
(R-HSA-432720)
Membrane trafficking
(R-HSA-199991)
Mhc class ii antigen presentation
(R-HSA-2132295)
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
(R-HSA-164938)
Nef mediated downregulation of mhc class i complex cell surface expression
(R-HSA-164940)
The role of nef in hiv-1 replication and disease pathogenesis
(R-HSA-164952)
Trans-golgi network vesicle budding
(R-HSA-199992)
Viral infection pathways
(R-HSA-9824446)
Ap-1 adaptor complex
(GO:0030121)
Basolateral protein secretion
(GO:0110010)
Clathrin binding
(GO:0030276)
Cytoplasmic vesicle membrane
(GO:0030659)
Cytosol
(GO:0005829)
Determination of left/right symmetry
(GO:0007368)
Early endosome
(GO:0005769)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
Heart development
(GO:0007507)
Intracellular membrane-bounded organelle
(GO:0043231)
Intracellular protein transport
(GO:0006886)
Kidney development
(GO:0001822)
Lysosomal membrane
(GO:0005765)
Melanosome assembly
(GO:1903232)
Platelet dense granule organization
(GO:0060155)
Protein binding
(GO:0005515)
Protein kinase binding
(GO:0019901)
Trans-golgi network membrane
(GO:0032588)
Vesicle-mediated transport
(GO:0016192)

Other Information

Proteins

AP-1 complex subunit beta-1

Genular Protein ID: 4288349243

Symbol: AP1B1_HUMAN

Name: AP-1 complex subunit beta-1

UniProtKB Accession Codes:

Q10567 C9JRD1 F8WDL0 P78436 Q20WL3 Q86X54

Database IDs:

Citations:

PubMed ID: 7987321

Title: Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene.

PubMed ID: 7987321

DOI: 10.1093/hmg/3.8.1393

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 8812422

Title: Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12.

PubMed ID: 8812422

DOI: 10.1006/geno.1996.0431

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: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31630791

Title: Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome.

PubMed ID: 31630791

DOI: 10.1016/j.ajhg.2019.09.020

PubMed ID: 31630788

Title: Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.

PubMed ID: 31630788

DOI: 10.1016/j.ajhg.2019.09.021

Sequence Information:

Length: 949
Mass: 104607
Checksum: 0B010DD2F29B248E
Sequence:

MTDSKYFTTT KKGEIFELKA ELNSDKKEKK KEAVKKVIAS MTVGKDVSAL FPDVVNCMQT 
DNLELKKLVY LYLMNYAKSQ PDMAIMAVNT FVKDCEDPNP LIRALAVRTM GCIRVDKITE 
YLCEPLRKCL KDEDPYVRKT AAVCVAKLHD INAQLVEDQG FLDTLKDLIS DSNPMVVANA 
VAALSEIAES HPSSNLLDLN PQSINKLLTA LNECTEWGQI FILDCLANYM PKDDREAQSI 
CERVTPRLSH ANSAVVLSAV KVLMKFMEML SKDLDYYGTL LKKLAPPLVT LLSAEPELQY 
VALRNINLIV QKRPEILKHE MKVFFVKYND PIYVKLEKLD IMIRLASQAN IAQVLAELKE 
YATEVDVDFV RKAVRAIGRC AIKVEQSAER CVSTLLDLIQ TKVNYVVQEA IVVIKDIFRK 
YPNKYESVIA TLCENLDSLD EPEARAAMIW IVGEYAERID NADELLESFL EGFHDESTQV 
QLQLLTAIVK LFLKKPTETQ ELVQQVLSLA TQDSDNPDLR DRGYIYWRLL STDPVAAKEV 
VLAEKPLISE ETDLIEPTLL DELICYIGTL ASVYHKPPSA FVEGGRGVVH KSLPPRTASS 
ESAESPETAP TGAPPGEQPD VIPAQGDLLG DLLNLDLGPP VSGPPLATSS VQMGAVDLLG 
GGLDSLMGDE PEGIGGTNFV APPTAAVPAN LGAPIGSGLS DLFDLTSGVG TLSGSYVAPK 
AVWLPAMKAK GLEISGTFTR QVGSISMDLQ LTNKALQVMT DFAIQFNRNS FGLAPAAPLQ 
VHAPLSPNQT VEISLPLSTV GSVMKMEPLN NLQVAVKNNI DVFYFSTLYP LHILFVEDGK 
MDRQMFLATW KDIPNENEAQ FQIRDCPLNA EAASSKLQSS NIFTVAKRNV EGQDMLYQSL 
KLTNGIWVLA ELRIQPGNPS CTDLELSLKC RAPEVSQHVY QAYETILKN

The gene details are incomplete or unavailable at the moment.

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: AP1B1

Associated with

Other Information

Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. PubMed ID: 7987321

A genome annotation-driven approach to cloning the human ORFeome. PubMed ID: 15461802

The DNA sequence of human chromosome 22. PubMed ID: 10591208

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12. PubMed ID: 8812422

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Homozygous loss-of-function mutations in AP1B1, encoding beta-1 subunit of adaptor-related protein complex 1, cause MEDNIK-like syndrome. PubMed ID: 31630791

Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia. PubMed ID: 31630788