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FAM91A1 family with sequence similarity 91 member A1 [ Homo sapiens (human) ]

Gene ID: 157769, updated on 21-Dec-2019

Summary

Official Symbol
FAM91A1provided by HGNC
Official Full Name
family with sequence similarity 91 member A1provided by HGNC
Primary source
HGNC:HGNC:26306
See related
Ensembl:ENSG00000176853
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in bone marrow (RPKM 18.2), thyroid (RPKM 13.0) and 25 other tissues See more
Orthologs

Genomic context

See FAM91A1 in Genome Data Viewer
Location:
8q24.13
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (123768439..123815452)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124780679..124827692)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375738 Neighboring gene uncharacterized LOC105375739 Neighboring gene annexin A13 Neighboring gene fer-1 like family member 6 Neighboring gene FER1L6 antisense RNA 1 Neighboring gene FER1L6 antisense RNA 2 Neighboring gene neuropilin and tolloid like 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23790, DKFZp666B104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport IDA
Inferred from Direct Assay
more info
PubMed 
vesicle tethering to Golgi IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM91A1
Names
skeletal muscle cells re-entry induced

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317917.2NP_001304846.2  protein FAM91A1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC011134
  2. NM_001317918.1NP_001304847.1  protein FAM91A1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes a 3' terminal exon that extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011134, AK300603, BM151216, CN263780, DC308945, DQ228141
    Consensus CDS
    CCDS83322.1
    UniProtKB/Swiss-Prot
    Q658Y4
    UniProtKB/TrEMBL
    B4DUD8, E7ER68
    Related
    ENSP00000429491.1, ENST00000521166.5
    Conserved Domains (2) summary
    pfam14647
    Location:10312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374777
    FAM91_C; FAM91 C-terminus
  3. NM_144963.4NP_659400.3  protein FAM91A1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC011134
    Consensus CDS
    CCDS6346.2
    Related
    ENSP00000335082.7, ENST00000334705.12
    Conserved Domains (2) summary
    pfam14647
    Location:10312
    FAM91_N; FAM91 N-terminus
    pfam14648
    Location:374821
    FAM91_C; FAM91 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    123768439..123815452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001745485.2 RNA Sequence

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