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FAM171A1 family with sequence similarity 171 member A1 [ Homo sapiens (human) ]

Gene ID: 221061, updated on 4-Jul-2021

Summary

Official Symbol
FAM171A1provided by HGNC
Official Full Name
family with sequence similarity 171 member A1provided by HGNC
Primary source
HGNC:HGNC:23522
See related
Ensembl:ENSG00000148468
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
Also known as
APCN; C10orf38
Expression
Ubiquitous expression in brain (RPKM 24.6), kidney (RPKM 14.3) and 24 other tissues See more
Orthologs
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Genomic context

See FAM171A1 in Genome Data Viewer
Location:
10p13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (15211643..15374532, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (15253642..15413288, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376434 Neighboring gene uncharacterized LOC107984211 Neighboring gene uncharacterized LOC105376433 Neighboring gene Sharpr-MPRA regulatory region 6046 Neighboring gene integrin subunit alpha 8 Neighboring gene Sharpr-MPRA regulatory region 12763

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

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12884, MGC130014, MGC130015

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 regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in stress fiber assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM171A1
Names
astroprincin

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_001010924.2NP_001010924.1  protein FAM171A1 precursor

    See identical proteins and their annotated locations for NP_001010924.1

    Status: VALIDATED

    Source sequence(s)
    AK022946, AL050367, AL139338, BC034232, BX496483
    Consensus CDS
    CCDS31154.1
    UniProtKB/Swiss-Prot
    Q5VUB5
    UniProtKB/TrEMBL
    B3KMX9, Q9Y438
    Related
    ENSP00000367356.4, ENST00000378116.9
    Conserved Domains (1) summary
    pfam10577
    Location:34888
    UPF0560; Uncharacterized protein family UPF0560

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    15211643..15374532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015904.1XP_016871393.1  protein FAM171A1 isoform X2

  2. XM_011519378.2XP_011517680.1  protein FAM171A1 isoform X1

    Conserved Domains (1) summary
    pfam10577
    Location:21875
    UPF0560; uncharacterized protein family UPF0560
  3. XM_017015905.2XP_016871394.1  protein FAM171A1 isoform X3

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