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

    Gene ID: 157769, updated on 27-Nov-2024

    Summary

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    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 AllianceGenome:HGNC:26306
    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
    Summary
    Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.2), thyroid (RPKM 13.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM91A1 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123768439..123815452)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124900680..124947695)
    RS_2024_09 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 annexin A13 Neighboring gene uncharacterized LOC105375739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19506 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:124863791-124863939 Neighboring gene uncharacterized LOC124902014 Neighboring gene fer-1 like family member 6 Neighboring gene Sharpr-MPRA regulatory region 15371 Neighboring gene FER1L6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12119

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Dysbindin-associated proteome in the p2 synaptosome fraction of mouse brain. Han MH, et al. J Proteome Res, 2014 Nov 7. PMID 25198678, Free PMC Article
    2. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH. Zhao L, et al. Proc Natl Acad Sci U S A, 2023 Nov 7. PMID 37903274, Free PMC Article
    3. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Navarro Negredo P, et al. Nat Commun, 2018 Feb 9. PMID 29426865, Free PMC Article
    4. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. Shin JJH, et al. Nat Cell Biol, 2017 Dec. PMID 29084197, Free PMC Article
    5. Genome-wide association study of pancreatic cancer in Japanese population. Low SK, et al. PLoS One, 2010 Jul 29. PMID 20686608, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
      Title: FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23790, DKFZp666B104

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle tethering to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle tethering to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001317917.2 → NP_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
      Conserved Domains (2) summary
      pfam14647
      Location:1 → 70
      FAM91_N; FAM91 N-terminus
      pfam14648
      Location:132 → 579
      FAM91_C; FAM91 C-terminus

    2. NM_001317918.1 → NP_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/TrEMBL
      B4DUD8, E7ER68
      Related
      ENSP00000429491.1, ENST00000521166.5
      Conserved Domains (2) summary
      pfam14647
      Location:10 → 312
      FAM91_N; FAM91 N-terminus
      pfam14648
      Location:374 → 777
      FAM91_C; FAM91 C-terminus

    3. NM_144963.4 → NP_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
      UniProtKB/Swiss-Prot
      B6YY23, Q658T5, Q658Y4, Q8TE89
      UniProtKB/TrEMBL
      B4DUD8
      Related
      ENSP00000335082.7, ENST00000334705.12
      Conserved Domains (2) summary
      pfam14647
      Location:10 → 312
      FAM91_N; FAM91 N-terminus
      pfam14648
      Location:374 → 821
      FAM91_C; FAM91 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047421405.1 → XP_047277361.1  protein FAM91A1 isoform X1

    2. XM_047421406.1 → XP_047277362.1  protein FAM91A1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124900680..124947695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359846.1 → XP_054215821.1  protein FAM91A1 isoform X1

    2. XM_054359847.1 → XP_054215822.1  protein FAM91A1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q658Y4.3 GenPept UniProtKB/Swiss-Prot:Q658Y4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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