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AFAP1L1 actin filament associated protein 1 like 1 [ Homo sapiens (human) ]

Gene ID: 134265, updated on 7-Dec-2018

Summary

Official Symbol
AFAP1L1provided by HGNC
Official Full Name
actin filament associated protein 1 like 1provided by HGNC
Primary source
HGNC:HGNC:26714
See related
Ensembl:ENSG00000157510 MIM:614410
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
Broad expression in fat (RPKM 15.5), placenta (RPKM 9.5) and 18 other tissues See more
Orthologs

Genomic context

See AFAP1L1 in Genome Data Viewer
Location:
5q32
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (149271838..149343637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148651401..148721368)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 145 Neighboring gene actin binding LIM protein family member 3 Neighboring gene GRPEL2 antisense RNA 1 Neighboring gene GrpE like 2, mitochondrial Neighboring gene prenylcysteine oxidase 1 like Neighboring gene interleukin 17B

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36748, MGC149773

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
invadopodium IEA
Inferred from Electronic Annotation
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
actin filament-associated protein 1-like 1
Names
AFAP1-like protein 1

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_001146337.2NP_001139809.1  actin filament-associated protein 1-like 1 isoform 2

    See identical proteins and their annotated locations for NP_001139809.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC131025, AK074185, BC125093, BC125094, BX107758, DA792192
    Consensus CDS
    CCDS54932.1
    UniProtKB/Swiss-Prot
    Q8TED9
    Related
    ENSP00000424427.1, ENST00000515000.1
    Conserved Domains (3) summary
    cd13306
    Location:210316
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:419518
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:226316
    PH; PH domain
  2. NM_001323062.1NP_001309991.1  actin filament-associated protein 1-like 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC131025, AK074185, BC125093, BX107758, DA792192
    UniProtKB/Swiss-Prot
    Q8TED9
    Conserved Domains (3) summary
    cd13306
    Location:177283
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:386485
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:193283
    PH; PH domain
  3. NM_001323063.1NP_001309992.1  actin filament-associated protein 1-like 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC131025, BC040723, DA792192
    UniProtKB/Swiss-Prot
    Q8TED9
    Conserved Domains (2) summary
    cd13306
    Location:210316
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    pfam00169
    Location:226316
    PH; PH domain
  4. NM_152406.4NP_689619.1  actin filament-associated protein 1-like 1 isoform 1

    See identical proteins and their annotated locations for NP_689619.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC131025, AK074185, BC125093, BX107758, DA792192
    Consensus CDS
    CCDS34274.1
    UniProtKB/Swiss-Prot
    Q8TED9
    Related
    ENSP00000296721.4, ENST00000296721.8
    Conserved Domains (2) summary
    cd13306
    Location:210316
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:419518
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    149271838..149343637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009036.1XP_016864525.1  actin filament-associated protein 1-like 1 isoform X1

  2. XM_011537558.2XP_011535860.1  actin filament-associated protein 1-like 1 isoform X2

    Conserved Domains (3) summary
    cd13306
    Location:70176
    PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
    cd13307
    Location:279378
    PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
    pfam00169
    Location:86176
    PH; PH domain
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