Details for: FAM50A

Gene ID: 9130

Symbol: FAM50A

Ensembl ID: ENSG00000071859

Description: family with sequence similarity 50 member A

Associated with

Other Information

Genular Protein ID: 850097076

Symbol: FA50A_HUMAN

Name: Protein FAM50A

UniProtKB Accession Codes:

Q14320 A8KAQ4 B2R997 Q5HY37 Q6PJH5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 1 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9339379

Title: Differential expression of XAP5, a candidate disease gene.

PubMed ID: 9339379

DOI: 10.1006/geno.1997.4912

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9039504

Title: Isolation and analysis of a novel gene, HXC-26, adjacent to the rab GDP dissociation inhibitor gene located at human chromosome Xq28 region.

PubMed ID: 9039504

DOI: 10.1093/dnares/3.5.337

PubMed ID: 8733135

Title: Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.

PubMed ID: 8733135

DOI: 10.1093/hmg/5.5.659

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 32703943

Title: Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

PubMed ID: 32703943

DOI: 10.1038/s41467-020-17452-6

Sequence Information:

  • Length: 339
  • Mass: 40242
  • Checksum: 88BCA57E49B0AA32
  • Sequence:
    • MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS AHYDAVEAEL 
KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK LEKLREKERK KEAKRKISSL 
SFTLEEEEEG GEEEEEAAMY EEEMEREEIT TKKRKLGKNP DVDTSFLPDR DREEEENRLR 
EELRQEWEAK QEKIKSEEIE ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE 
LRSAGVEQLM YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE 
SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR

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.