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

Gene ID: 56995, updated on 2-Nov-2024

Summary

Official Symbol
TULP4provided by HGNC
Official Full Name
TUB like protein 4provided by HGNC
Primary source
HGNC:HGNC:15530
See related
Ensembl:ENSG00000130338 MIM:619442; AllianceGenome:HGNC:15530
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
Summary
Predicted to be involved in protein ubiquitination. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 5.2), testis (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

See TULP4 in Genome Data Viewer
Location:
6q25.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158232195..158511828)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (159476584..159756806)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158733497..158932860)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak6269 silencer Neighboring gene serine active site containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158604236-158604740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158604741-158605243 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:158615403-158616003 Neighboring gene general transcription factor IIH subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:158653118-158653990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25349 Neighboring gene signal recognition particle 72 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:158706531-158707245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17738 Neighboring gene uncharacterized LOC124901447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25353 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:158760174-158760706 Neighboring gene small nucleolar RNA, H/ACA box 116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25354 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:158832933-158834132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25355 Neighboring gene RNA, 7SL, cytoplasmic 173, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:158884819-158885810 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:158885811-158886802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158890813-158891694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158895792-158896364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158900383-158900884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158927517-158928017 Neighboring gene Sharpr-MPRA regulatory region 4140 Neighboring gene Sharpr-MPRA regulatory region 10808 Neighboring gene calcyclin binding protein pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158982153-158982654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158982655-158983154 Neighboring gene transmembrane protein 181 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159000120-159000332 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:159030351-159030852 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 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1397

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001007466.3NP_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, ENST00000367094.6
    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_020245.5NP_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
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
    Related
    ENSP00000356064.3, ENST00000367097.8
    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: 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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    158232195..158511828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419082.1XP_047275038.1  tubby-related protein 4 isoform X1

  2. XM_047419087.1XP_047275043.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  3. XM_047419084.1XP_047275040.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  4. XM_047419081.1XP_047275037.1  tubby-related protein 4 isoform X1

  5. XM_047419086.1XP_047275042.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  6. XM_047419085.1XP_047275041.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  7. XM_047419079.1XP_047275035.1  tubby-related protein 4 isoform X1

  8. XM_047419083.1XP_047275039.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  9. XM_047419088.1XP_047275044.1  tubby-related protein 4 isoform X3

  10. XM_011535946.2XP_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 ...
  11. XM_017011070.2XP_016866559.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
    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 ...
  12. XM_047419089.1XP_047275045.1  tubby-related protein 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    159476584..159756806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355951.1XP_054211926.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  2. XM_054355943.1XP_054211918.1  tubby-related protein 4 isoform X1

  3. XM_054355953.1XP_054211928.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  4. XM_054355945.1XP_054211920.1  tubby-related protein 4 isoform X1

  5. XM_054355948.1XP_054211923.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  6. XM_054355947.1XP_054211922.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  7. XM_054355955.1XP_054211930.1  tubby-related protein 4 isoform X3

  8. XM_054355956.1XP_054211931.1  tubby-related protein 4 isoform X3

  9. XM_054355954.1XP_054211929.1  tubby-related protein 4 isoform X4

  10. XM_054355944.1XP_054211919.1  tubby-related protein 4 isoform X1

  11. XM_054355949.1XP_054211924.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  12. XM_054355952.1XP_054211927.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0
  13. XM_054355946.1XP_054211921.1  tubby-related protein 4 isoform X1

  14. XM_054355942.1XP_054211917.1  tubby-related protein 4 isoform X1

  15. XM_054355950.1XP_054211925.1  tubby-related protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q5T3M2, Q5T3M3, Q9HD22, Q9NRJ4, Q9P2F0