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PSRC1 proline and serine rich coiled-coil 1 [ Homo sapiens (human) ]

Gene ID: 84722, updated on 13-Mar-2020

Summary

Official Symbol
PSRC1provided by HGNC
Official Full Name
proline and serine rich coiled-coil 1provided by HGNC
Primary source
HGNC:HGNC:24472
See related
Ensembl:ENSG00000134222 MIM:613126
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DDA3; FP3214
Summary
This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
Expression
Broad expression in brain (RPKM 9.0), testis (RPKM 4.6) and 23 other tissues See more
Orthologs

Genomic context

See PSRC1 in Genome Data Viewer
Location:
1p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109279554..109283172, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109822176..109825790, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cadherin EGF LAG seven-pass G-type receptor 2 Neighboring gene VISTA enhancer hs2263 Neighboring gene Sharpr-MPRA regulatory region 472 Neighboring gene myosin binding protein H like Neighboring gene sortilin 1

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
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
NHGRI GWA Catalog
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
NHGRI GWA Catalog
Genomewide association analysis of coronary artery disease.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
LDL-cholesterol concentrations: a genome-wide association study.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1780

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
microtubule bundle formation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitotic metaphase plate congression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of cyclin-dependent protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of microtubule polymerization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of mitotic spindle organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
midbody ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
spindle ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
colocalizes_with spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
proline/serine-rich coiled-coil protein 1
Names
differential display and activated by p53
p53-regulated DDA3
proline/serine-rich coiled-coil 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_001005290.3NP_001005290.1  proline/serine-rich coiled-coil protein 1 isoform b

    See identical proteins and their annotated locations for NP_001005290.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two different alternate splice sites, which results in a frameshift, compared to variant 1. It encodes isoform b which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BI857497, BJ992594, BX649139
    Consensus CDS
    CCDS30791.1
    UniProtKB/Swiss-Prot
    Q6PGN9
    Related
    ENSP00000358920.3, ENST00000369904.7
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  2. NM_001032291.2NP_001027462.1  proline/serine-rich coiled-coil protein 1 isoform a

    See identical proteins and their annotated locations for NP_001027462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (a).
    Source sequence(s)
    AK289593, AL390252, BI857497, BJ992594
    Consensus CDS
    CCDS797.1
    UniProtKB/Swiss-Prot
    Q6PGN9
    UniProtKB/TrEMBL
    A0A024R099, A8K0M8
    Related
    ENSP00000358925.2, ENST00000369909.6
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  3. NM_001350237.1NP_001337166.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BI857497, BX649139, DA141210, DA666480
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  4. NM_001350238.1NP_001337167.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BI857497, BJ992594, BX649139, DR158928
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  5. NM_001350239.1NP_001337168.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BI857497, BJ992594, BX649139, DR158928
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  6. NM_001350240.1NP_001337169.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BI857497, BJ992594, BP354477, BX649139, DR158928
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  7. NM_001350241.1NP_001337170.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BI857497, BJ992594, BX649139, CN405809
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  8. NM_001350242.1NP_001337171.1  proline/serine-rich coiled-coil protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and uses two alternate splice sites in the central coding region, but maintains the reading frame, compared to variant 1. It encodes isoform d which has the same N- and C-termini, but is shorter than isoform a. Variant 5-10 encode the same isoform (d).
    Source sequence(s)
    AW898470, BG281896, BI857497, BJ992594, BX649139
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26464
    Location:47317
    Atrophin-1; Atrophin-1 family
  9. NM_001363309.1NP_001350238.1  proline/serine-rich coiled-coil protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and retains an intron in the 3' coding region compared to variant 1. It encodes isoform c which has the same N- and C-termini, as well as an additional segment, compared to isoform a
    Source sequence(s)
    BC056909, BI857497
    Related
    ENSP00000474667.1, ENST00000409138.6
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  10. NM_032636.7NP_116025.1  proline/serine-rich coiled-coil protein 1 isoform a

    See identical proteins and their annotated locations for NP_116025.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the second-longest isoform (a). Both variants 1 and 3 encode the same isoform (a).
    Source sequence(s)
    AF223000, BI857497, BJ992594
    Consensus CDS
    CCDS797.1
    UniProtKB/Swiss-Prot
    Q6PGN9
    UniProtKB/TrEMBL
    A0A024R099
    Related
    ENSP00000358923.3, ENST00000369907.7
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    109279554..109283172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002567.1XP_016858056.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  2. XM_017002566.1XP_016858055.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  3. XM_017002563.1XP_016858052.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  4. XM_024450335.1XP_024306103.1  proline/serine-rich coiled-coil protein 1 isoform X2

    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  5. XM_017002564.2XP_016858053.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  6. XM_017002561.2XP_016858050.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  7. XM_024450337.1XP_024306105.1  proline/serine-rich coiled-coil protein 1 isoform X3

    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  8. XM_017002562.1XP_016858051.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  9. XM_017002570.1XP_016858059.1  proline/serine-rich coiled-coil protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q6PGN9
    UniProtKB/TrEMBL
    A0A024R099
    Related
    ENSP00000386323.1, ENST00000409267.5
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  10. XM_017002569.1XP_016858058.1  proline/serine-rich coiled-coil protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q6PGN9
    UniProtKB/TrEMBL
    A0A024R099
    Related
    ENSP00000358919.2, ENST00000369903.6
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  11. XM_017002576.2XP_016858065.1  proline/serine-rich coiled-coil protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  12. XM_017002560.2XP_016858049.1  proline/serine-rich coiled-coil protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6PGN9
    Conserved Domains (1) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
  13. XM_005271283.3XP_005271340.1  proline/serine-rich coiled-coil protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005271340.1

    UniProtKB/Swiss-Prot
    Q6PGN9
    UniProtKB/TrEMBL
    A0A024R099
    Conserved Domains (2) summary
    pfam15259
    Location:8122
    GTSE1_N; G-2 and S-phase expressed 1
    cl26386
    Location:98333
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RNA

  1. XR_002957829.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001032290.1: Suppressed sequence

    Description
    NM_001032290.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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