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TULP4 tubby like protein 4 [ Homo sapiens (human) ]

Gene ID: 56995, updated on 4-Nov-2018

Summary

Official Symbol
TULP4provided by HGNC
Official Full Name
tubby like protein 4provided by HGNC
Primary source
HGNC:HGNC:15530
See related
Ensembl:ENSG00000130338 Vega:OTTHUMG00000015910
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
TUSP
Expression
Ubiquitous expression in brain (RPKM 5.2), testis (RPKM 3.3) and 25 other tissues See more
Orthologs

Genomic context

See TULP4 in Genome Data Viewer
Location:
6q25.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (158232236..158511828)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158653268..158932860)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene serine active site containing 1 Neighboring gene general transcription factor IIH subunit 5 Neighboring gene signal recognition particle 72 pseudogene 2 Neighboring gene small nucleolar RNA, H/ACA box 116 Neighboring gene RNA, 7SL, cytoplasmic 173, pseudogene Neighboring gene calcyclin binding protein pseudogene 3 Neighboring gene transmembrane protein 181 Neighboring gene TatD DNase domain containing 2 pseudogene 2 Neighboring gene microRNA 7161

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 Jun 15 11:32:44 2016

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1397

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tubby-related protein 4
Names
tubby super-family protein
tubby superfamily protein

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_001007466.2NP_001007467.1  tubby-related protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001007467.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB037818, AF219946, AF288480, AL360169
    Consensus CDS
    CCDS34562.1
    UniProtKB/Swiss-Prot
    Q9NRJ4
    Related
    ENSP00000356061.2, OTTHUMP00000017503, ENST00000367094.6, OTTHUMT00000042870
    Conserved Domains (5) summary
    COG2319
    Location:67218
    WD40; WD40 repeat [General function prediction only]
    pfam01167
    Location:588646
    Tub; Tub family
    sd00039
    Location:85123
    7WD40; WD40 repeat [structural motif]
    cl02533
    Location:373408
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
    cl02567
    Location:78218
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_020245.4NP_064630.2  tubby-related protein 4 isoform 1

    See identical proteins and their annotated locations for NP_064630.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF219946, AL353800, AL360169
    Consensus CDS
    CCDS34561.1
    UniProtKB/Swiss-Prot
    Q9NRJ4
    Related
    ENSP00000356064.3, OTTHUMP00000017502, ENST00000367097.7, OTTHUMT00000042869
    Conserved Domains (5) summary
    COG2319
    Location:67218
    WD40; WD40 repeat [General function prediction only]
    pfam01167
    Location:14661536
    Tub; Tub family
    sd00039
    Location:85123
    7WD40; WD40 repeat [structural motif]
    cl02533
    Location:373408
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
    cl02567
    Location:78213
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    158232236..158511828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535946.1XP_011534248.1  tubby-related protein 4 isoform X1

    Conserved Domains (5) summary
    COG2319
    Location:67218
    WD40; WD40 repeat [General function prediction only]
    pfam01167
    Location:14891559
    Tub; Tub family
    sd00039
    Location:85123
    7WD40; WD40 repeat [structural motif]
    cl02533
    Location:396431
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
    cl02567
    Location:78213
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_017011070.1XP_016866559.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q9NRJ4
    Conserved Domains (5) summary
    COG2319
    Location:67218
    WD40; WD40 repeat [General function prediction only]
    pfam01167
    Location:14661536
    Tub; Tub family
    sd00039
    Location:85123
    7WD40; WD40 repeat [structural motif]
    cl02533
    Location:373408
    SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
    cl02567
    Location:78213
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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