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FILIP1L filamin A interacting protein 1 like [ Homo sapiens (human) ]

Gene ID: 11259, updated on 13-Mar-2020

Summary

Official Symbol
FILIP1Lprovided by HGNC
Official Full Name
filamin A interacting protein 1 likeprovided by HGNC
Primary source
HGNC:HGNC:24589
See related
Ensembl:ENSG00000168386 MIM:612993
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
DOC1; DOC-1; GIP90; GIP130
Expression
Ubiquitous expression in gall bladder (RPKM 44.5), urinary bladder (RPKM 29.8) and 23 other tissues See more
Orthologs

Genomic context

See FILIP1L in Genome Data Viewer
Location:
3q12.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (99833144..100114513, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99551988..99833349, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen type VIII alpha 1 chain Neighboring gene uncharacterized LOC101929357 Neighboring gene cms1 ribosomal small subunit homolog Neighboring gene Sharpr-MPRA regulatory region 14327 Neighboring gene transmembrane protein 258 pseudogene Neighboring gene uncharacterized LOC112268455 Neighboring gene microRNA 3921 Neighboring gene uncharacterized LOC105374010 Neighboring gene uncharacterized LOC105374009 Neighboring gene transmembrane protein 30C, 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
filamin A-interacting protein 1-like
Names
130 kDa GPBP-interacting protein
90 kDa GPBP-interacting protein
protein down-regulated in ovarian cancer 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_001042459.2NP_001035924.1  filamin A-interacting protein 1-like isoform 3

    See identical proteins and their annotated locations for NP_001035924.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a 3'-terminal exon that extends past a splice site that is used in variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF329092, AF514869, BC017987, BM674194
    Consensus CDS
    CCDS43118.1
    UniProtKB/Swiss-Prot
    Q4L180
    Related
    ENSP00000327880.5, ENST00000331335.9
    Conserved Domains (2) summary
    pfam09727
    Location:66248
    CortBP2; Cortactin-binding protein-2
    pfam14662
    Location:309481
    KASH_CCD; Coiled-coil region of CCDC155 or KASH
  2. NM_001282793.1NP_001269722.1  filamin A-interacting protein 1-like isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF329092, AY642382, DB080427, EU531866
    Consensus CDS
    CCDS74969.1
    UniProtKB/Swiss-Prot
    Q4L180
    Related
    ENSP00000417774.1, ENST00000487087.5
    Conserved Domains (4) summary
    pfam00261
    Location:3260
    Tropomyosin; Tropomyosin
    pfam12001
    Location:41110
    DUF3496; Domain of unknown function (DUF3496)
    cl03075
    Location:196247
    GrpE; nucleotide exchange factor GrpE
    cl19219
    Location:123221
    DUF342; Protein of unknown function (DUF342)
  3. NM_001282794.1NP_001269723.1  filamin A-interacting protein 1-like isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF329092, AY642382, DB080427, EU531865
    Consensus CDS
    CCDS63700.1
    UniProtKB/Swiss-Prot
    Q4L180
    Related
    ENSP00000419642.1, ENST00000471562.1
    Conserved Domains (2) summary
    pfam06160
    Location:16537
    EzrA; Septation ring formation regulator, EzrA
    cl19219
    Location:171241
    DUF342; Protein of unknown function (DUF342)
  4. NM_001370247.1NP_001357176.1  filamin A-interacting protein 1-like isofom 2

    Status: VALIDATED

    Source sequence(s)
    AC069222, AK096195, AK225855, BC027860
    Related
    ENSP00000419874.2, ENST00000495625.2
    Conserved Domains (1) summary
    PRK03918
    Location:18491
    PRK03918; chromosome segregation protein; Provisional
  5. NM_014890.3NP_055705.2  filamin A-interacting protein 1-like isoform 2

    See identical proteins and their annotated locations for NP_055705.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the UTRs and coding region, but maintains reading frame, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC027860, BM674194, DB080427
    Consensus CDS
    CCDS43119.1
    UniProtKB/Swiss-Prot
    Q4L180
    Related
    ENSP00000373192.2, ENST00000383694.3
    Conserved Domains (1) summary
    PRK03918
    Location:18491
    PRK03918; chromosome segregation protein; Provisional
  6. NM_182909.3NP_878913.2  filamin A-interacting protein 1-like isoform 1

    See identical proteins and their annotated locations for NP_878913.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF329092
    Consensus CDS
    CCDS43117.1
    UniProtKB/Swiss-Prot
    Q4L180
    Related
    ENSP00000346560.3, ENST00000354552.7
    Conserved Domains (2) summary
    pfam09727
    Location:66248
    CortBP2; Cortactin-binding protein-2
    pfam14662
    Location:309481
    KASH_CCD; Coiled-coil region of CCDC155 or KASH

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    99833144..100114513 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512371.2XP_011510673.1  filamin A-interacting protein 1-like isoform X1

    Conserved Domains (2) summary
    pfam06160
    Location:68589
    EzrA; Septation ring formation regulator, EzrA
    cl19219
    Location:223293
    DUF342; Protein of unknown function (DUF342)
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