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Protein

Coiled-coil alpha-helical rod protein 1

Gene

CCHCR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May be a regulator of keratinocyte proliferation or differentiation.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • multicellular organism development Source: UniProtKB-KW
  • protein export from nucleus Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil alpha-helical rod protein 1
Alternative name(s):
Alpha-helical coiled-coil rod protein
Putative gene 8 protein
Short name:
Pg8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCHCR1
Synonyms:C6orf18, HCR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000204536.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13930 CCHCR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605310 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TD31

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
54535

Open Targets

More...
OpenTargetsi
ENSG00000204536

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134942738

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCHCR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
42558938

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000894161 – 782Coiled-coil alpha-helical rod protein 1Add BLAST782

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TD31

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TD31

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TD31

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TD31

PeptideAtlas

More...
PeptideAtlasi
Q8TD31

PRoteomics IDEntifications database

More...
PRIDEi
Q8TD31

ProteomicsDB human proteome resource

More...
ProteomicsDBi
74228
74229 [Q8TD31-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TD31

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TD31

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204536 Expressed in 207 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_CCHCR1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TD31 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TD31 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054167

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ABI2Q9NYB93EBI-10175300,EBI-743598
ALAS1P131963EBI-10175300,EBI-3905054
AMOTL2Q9Y2J4-43EBI-10175300,EBI-10187270
ANKRD36BP1Q96IX94EBI-10175300,EBI-744859
ATG5A9UGY93EBI-10175300,EBI-10175276
BLOC1S6Q9UL453EBI-10175300,EBI-465781
C1orf94Q6P1W54EBI-10175300,EBI-946029
CARD9Q9H2573EBI-10175300,EBI-751319
CCDC102BQ68D865EBI-10175300,EBI-10171570
CCDC13Q8IYE14EBI-10175300,EBI-10961312
CCDC136Q96JN2-23EBI-10175300,EBI-10171416
CDR2Q018505EBI-10175300,EBI-1181367
CEP55Q53EZ45EBI-10175300,EBI-747776
CFAP53Q96M914EBI-10175300,EBI-742422
COG6Q9Y2V74EBI-10175300,EBI-3866319
CTAGE5O153203EBI-10175300,EBI-1050253
DTNBO60941-54EBI-10175300,EBI-11984733
DTNBP1Q96EV83EBI-10175300,EBI-465804
EFHC2Q5JST65EBI-10175300,EBI-2349927
FSD2A1L4K15EBI-10175300,EBI-5661036
GOLGA2Q083797EBI-10175300,EBI-618309
HAUS1Q96CS25EBI-10175300,EBI-2514791
HSBP1O755067EBI-10175300,EBI-748664
KIFC3Q9BVG8-54EBI-10175300,EBI-14069005
KRT13A1A4E93EBI-10175300,EBI-10171552
KRT15P190125EBI-10175300,EBI-739566
KRT31Q153235EBI-10175300,EBI-948001
KRT40Q6A1625EBI-10175300,EBI-10171697
MAD1L1Q9Y6D95EBI-10175300,EBI-742610
MED4Q9NPJ65EBI-10175300,EBI-394607
MID2Q9UJV3-27EBI-10175300,EBI-10172526
MTUS2Q5JR593EBI-10175300,EBI-742948
NAB2Q157423EBI-10175300,EBI-8641936
NDC80O147777EBI-10175300,EBI-715849
NDEL1Q9GZM83EBI-10175300,EBI-928842
NINLQ9Y2I63EBI-10175300,EBI-719716
NME7Q9Y5B85EBI-10175300,EBI-744782
NUP62P371985EBI-10175300,EBI-347978
NUTM1Q86Y263EBI-10175300,EBI-10178410
PCM1Q15154-34EBI-10175300,EBI-11742977
PIAS2O759283EBI-10175300,EBI-348555
RBM17Q96I255EBI-10175300,EBI-740272
SAT1P216737EBI-10175300,EBI-711613
SPAG5Q96R065EBI-10175300,EBI-413317
SPERTQ8NA61-24EBI-10175300,EBI-11524851
SSX2IPQ9Y2D83EBI-10175300,EBI-2212028
TADA2AO754783EBI-10175300,EBI-742268
TEKT1Q969V45EBI-10175300,EBI-10180409
TFIP11Q9UBB97EBI-10175300,EBI-1105213
TPM3P0675311EBI-10175300,EBI-355607
TPM3Q5VU623EBI-10175300,EBI-10184033
TRAF1Q130775EBI-10175300,EBI-359224
TRAF2Q129335EBI-10175300,EBI-355744
TRIM27P143733EBI-10175300,EBI-719493
TSGA10Q9BZW75EBI-10175300,EBI-744794
TXLNAP402225EBI-10175300,EBI-359793
TXLNBQ8N3L35EBI-10175300,EBI-6116822
USHBP1Q8N6Y07EBI-10175300,EBI-739895
WASHC3Q9Y3C05EBI-10175300,EBI-712969
ZFYVE19Q96K21-33EBI-10175300,EBI-10187928

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120022, 115 interactors

Database of interacting proteins

More...
DIPi
DIP-40394N

Protein interaction database and analysis system

More...
IntActi
Q8TD31, 178 interactors

Molecular INTeraction database

More...
MINTi
Q8TD31

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379566

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8TD31

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TD31

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili111 – 303Sequence analysisAdd BLAST193
Coiled coili344 – 437Sequence analysisAdd BLAST94
Coiled coili498 – 691Sequence analysisAdd BLAST194

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGTY Eukaryota
ENOG410YGAD LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153251

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG048718

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TD31

KEGG Orthology (KO)

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KOi
K16760

Identification of Orthologs from Complete Genome Data

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OMAi
HTIRGLM

Database of Orthologous Groups

More...
OrthoDBi
1046571at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TD31

TreeFam database of animal gene trees

More...
TreeFami
TF336947

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009800 HCR

The PANTHER Classification System

More...
PANTHERi
PTHR23161:SF5 PTHR23161:SF5, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07111 HCR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 35 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TD31-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR
60 70 80 90 100
LDTQRPQVTM WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE
110 120 130 140 150
LRRLEEEVRL LRETSLQQKM RLEAQAMELE ALARAEKAGR AEAEGLRAAL
160 170 180 190 200
AGAEVVRKNL EEGSQRELEE VQRLHQEQLS SLTQAHEEAL SSLTSKAEGL
210 220 230 240 250
EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE AQVTLVENLR
260 270 280 290 300
KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
310 320 330 340 350
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA
360 370 380 390 400
QELEHSDSVK QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG
410 420 430 440 450
AKGLQLELSR AQEARRRWQQ QTASAEEQLR LVVNAVSSSQ IWLETTMAKV
460 470 480 490 500
EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR KLALAQLRQE SCPLPPPVTD
510 520 530 540 550
VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE RQQLSKVAQQ
560 570 580 590 600
LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
610 620 630 640 650
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER
660 670 680 690 700
SQELRRLQEE ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR
710 720 730 740 750
LLTVLPSLLD KKKSVVSSPR PPECSASAPV AAAVPTRESI KGSLSVLLDD
760 770 780
LQDLSEAISK EEAVCQGDNL DRCSSSNPQM SS
Length:782
Mass (Da):88,671
Last modified:February 16, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0E7DE742DB57B29E
GO
Isoform 2 (identifier: Q8TD31-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MWPHSAGARP...NLEPSNNVEM

Show »
Length:871
Mass (Da):99,007
Checksum:iCFB1EF2739BCCE8D
GO
Isoform 3 (identifier: Q8TD31-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MFPPSGSTGL...LSDIPLVQPP → MWPHSAGARP...SNNVEMFPPS

Note: Gene prediction based on EST data.
Show »
Length:835
Mass (Da):95,145
Checksum:i9207F3B3D2D68D64
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 35 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2ABH1A2ABH1_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
729Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PHV1E9PHV1_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAE7D6RAE7_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EQC5E7EQC5_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
140Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EPK4E7EPK4_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B0S7V6B0S7V6_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
782Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EQE8E7EQE8_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PGB6E9PGB6_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RDI7D6RDI7_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A2ABH5A2ABH5_HUMAN
Coiled-coil alpha-helical rod prote...
CCHCR1
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF74221 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Isoform 2 : The sequence AAI10536 differs from that shown. Reason: Erroneous termination at position 78. Translated as Trp.Curated
The sequence BAA81890 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA82158 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA91236 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB63313 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAC54937 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti20P → A in BAA81890 (PubMed:10545595).Curated1
Sequence conflicti43H → Y in BAA91007 (PubMed:14702039).Curated1
Sequence conflicti395E → G in BAA91236 (PubMed:14702039).Curated1
Sequence conflicti472H → L in BAA91007 (PubMed:14702039).Curated1
Sequence conflicti498V → A in BAA91007 (PubMed:14702039).Curated1
Sequence conflicti667Q → L in BAA91236 (PubMed:14702039).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

HCR*WWCC is associated with susceptibility to psoriasis. Psoriasis is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is a multifactorial disease characterized by red, scaly skin lesions that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by hyperproliferative keratinocytes and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age. Association of HCR with psoriasis seem to be due to linkage disequilibrium with Cw*06:02 (PubMed:11348465). HCR is unlikely to be directly involved in psoriasis development.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017761102R → Q2 PublicationsCorresponds to variant dbSNP:rs130075Ensembl.1
Natural variantiVAR_017762103R → W in allele HCR*WWCC; associated with psoriasis. 4 PublicationsCorresponds to variant dbSNP:rs130065Ensembl.1
Natural variantiVAR_017763109R → W in allele HCR*WWCC; associated with psoriasis. 5 PublicationsCorresponds to variant dbSNP:rs130076Ensembl.1
Natural variantiVAR_017764164S → R8 PublicationsCorresponds to variant dbSNP:rs130066Ensembl.1
Natural variantiVAR_017782179L → Q1 PublicationCorresponds to variant dbSNP:rs11540822Ensembl.1
Natural variantiVAR_017765275E → D6 PublicationsCorresponds to variant dbSNP:rs130067Ensembl.1
Natural variantiVAR_017783367A → T1 PublicationCorresponds to variant dbSNP:rs2027937Ensembl.1
Natural variantiVAR_017767417R → Q2 PublicationsCorresponds to variant dbSNP:rs130069Ensembl.1
Natural variantiVAR_017766417R → W6 PublicationsCorresponds to variant dbSNP:rs130068Ensembl.1
Natural variantiVAR_017768546K → R. Corresponds to variant dbSNP:rs2073720Ensembl.1
Natural variantiVAR_017769575G → C in allele HCR*WWCC; associated with psoriasis. 6 PublicationsCorresponds to variant dbSNP:rs130079Ensembl.1
Natural variantiVAR_017770627R → Q2 PublicationsCorresponds to variant dbSNP:rs130072Ensembl.1
Natural variantiVAR_017771639Q → H1 PublicationCorresponds to variant dbSNP:rs130074Ensembl.1
Natural variantiVAR_017784733A → V1 PublicationCorresponds to variant dbSNP:rs140560656Ensembl.1
Natural variantiVAR_017772776S → C in allele HCR*WWCC; associated with psoriasis. 6 PublicationsCorresponds to variant dbSNP:rs1576Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0470691 – 41MFPPS…LVQPP → MWPHSAGARPWASTLTGKDP RVMACWCLDGLPSGLAEPWR ELWRWRSRPLHCVPPFSPLA RSSRDHRNLRRRGNIDGWRQ NLEPSNNVEMFPPS in isoform 3. CuratedAdd BLAST41
Alternative sequenceiVSP_0380621M → MWPHSAGARPWASTLTGKDP RVMACWCLDGLPSGLAEPWR ELWRWRSRPLHCVPPFSPLA RSSRDHRNLRRRGNIDGWRQ NLEPSNNVEM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY029160 mRNA Translation: AAK55759.1
BA000025 Genomic DNA Translation: BAB63313.1 Sequence problems.
AB088104 Genomic DNA Translation: BAC54937.1 Sequence problems.
AK000204 mRNA Translation: BAA91007.1
AK000217 mRNA Translation: BAA91016.1
AK000533 mRNA Translation: BAA91236.1 Different initiation.
AL662833 Genomic DNA No translation available.
AL662844 Genomic DNA No translation available.
AL773544 Genomic DNA No translation available.
CR753819 Genomic DNA No translation available.
BC110535 mRNA Translation: AAI10536.1
AB029331 mRNA Translation: BAA81890.1 Different initiation.
AB029343 Genomic DNA Translation: BAA82158.1 Sequence problems.
AF216493 mRNA Translation: AAF74221.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43445.1 [Q8TD31-2]
CCDS4695.1 [Q8TD31-1]
CCDS47397.1 [Q8TD31-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001099033.1, NM_001105563.1 [Q8TD31-3]
NP_001099034.1, NM_001105564.1 [Q8TD31-2]
NP_061925.2, NM_019052.3 [Q8TD31-1]
XP_011513005.1, XM_011514703.1 [Q8TD31-1]
XP_016866451.1, XM_017010962.1 [Q8TD31-1]
XP_016866452.1, XM_017010963.1 [Q8TD31-1]
XP_016866453.1, XM_017010964.1 [Q8TD31-1]
XP_016866454.1, XM_017010965.1 [Q8TD31-1]
XP_016866455.1, XM_017010966.1 [Q8TD31-1]
XP_016866456.1, XM_017010967.1 [Q8TD31-1]
XP_016866457.1, XM_017010968.1 [Q8TD31-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.485075

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000376266; ENSP00000365442; ENSG00000204536 [Q8TD31-1]
ENST00000383341; ENSP00000372832; ENSG00000206355
ENST00000383527; ENSP00000373019; ENSG00000206457 [Q8TD31-1]
ENST00000396268; ENSP00000379566; ENSG00000204536 [Q8TD31-2]
ENST00000400352; ENSP00000383205; ENSG00000206355
ENST00000400412; ENSP00000383263; ENSG00000206457 [Q8TD31-2]
ENST00000416163; ENSP00000408012; ENSG00000234114
ENST00000425620; ENSP00000393042; ENSG00000234114
ENST00000451521; ENSP00000401039; ENSG00000204536 [Q8TD31-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54535

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54535

UCSC genome browser

More...
UCSCi
uc003nsp.4 human [Q8TD31-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029160 mRNA Translation: AAK55759.1
BA000025 Genomic DNA Translation: BAB63313.1 Sequence problems.
AB088104 Genomic DNA Translation: BAC54937.1 Sequence problems.
AK000204 mRNA Translation: BAA91007.1
AK000217 mRNA Translation: BAA91016.1
AK000533 mRNA Translation: BAA91236.1 Different initiation.
AL662833 Genomic DNA No translation available.
AL662844 Genomic DNA No translation available.
AL773544 Genomic DNA No translation available.
CR753819 Genomic DNA No translation available.
BC110535 mRNA Translation: AAI10536.1
AB029331 mRNA Translation: BAA81890.1 Different initiation.
AB029343 Genomic DNA Translation: BAA82158.1 Sequence problems.
AF216493 mRNA Translation: AAF74221.1 Different initiation.
CCDSiCCDS43445.1 [Q8TD31-2]
CCDS4695.1 [Q8TD31-1]
CCDS47397.1 [Q8TD31-3]
RefSeqiNP_001099033.1, NM_001105563.1 [Q8TD31-3]
NP_001099034.1, NM_001105564.1 [Q8TD31-2]
NP_061925.2, NM_019052.3 [Q8TD31-1]
XP_011513005.1, XM_011514703.1 [Q8TD31-1]
XP_016866451.1, XM_017010962.1 [Q8TD31-1]
XP_016866452.1, XM_017010963.1 [Q8TD31-1]
XP_016866453.1, XM_017010964.1 [Q8TD31-1]
XP_016866454.1, XM_017010965.1 [Q8TD31-1]
XP_016866455.1, XM_017010966.1 [Q8TD31-1]
XP_016866456.1, XM_017010967.1 [Q8TD31-1]
XP_016866457.1, XM_017010968.1 [Q8TD31-1]
UniGeneiHs.485075

3D structure databases

ProteinModelPortaliQ8TD31
SMRiQ8TD31
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120022, 115 interactors
DIPiDIP-40394N
IntActiQ8TD31, 178 interactors
MINTiQ8TD31
STRINGi9606.ENSP00000379566

PTM databases

iPTMnetiQ8TD31
PhosphoSitePlusiQ8TD31

Polymorphism and mutation databases

BioMutaiCCHCR1
DMDMi42558938

Proteomic databases

EPDiQ8TD31
jPOSTiQ8TD31
MaxQBiQ8TD31
PaxDbiQ8TD31
PeptideAtlasiQ8TD31
PRIDEiQ8TD31
ProteomicsDBi74228
74229 [Q8TD31-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376266; ENSP00000365442; ENSG00000204536 [Q8TD31-1]
ENST00000383341; ENSP00000372832; ENSG00000206355
ENST00000383527; ENSP00000373019; ENSG00000206457 [Q8TD31-1]
ENST00000396268; ENSP00000379566; ENSG00000204536 [Q8TD31-2]
ENST00000400352; ENSP00000383205; ENSG00000206355
ENST00000400412; ENSP00000383263; ENSG00000206457 [Q8TD31-2]
ENST00000416163; ENSP00000408012; ENSG00000234114
ENST00000425620; ENSP00000393042; ENSG00000234114
ENST00000451521; ENSP00000401039; ENSG00000204536 [Q8TD31-3]
GeneIDi54535
KEGGihsa:54535
UCSCiuc003nsp.4 human [Q8TD31-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54535
DisGeNETi54535
EuPathDBiHostDB:ENSG00000204536.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCHCR1
HGNCiHGNC:13930 CCHCR1
HPAiHPA054167
MIMi605310 gene
neXtProtiNX_Q8TD31
OpenTargetsiENSG00000204536
PharmGKBiPA134942738

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGTY Eukaryota
ENOG410YGAD LUCA
GeneTreeiENSGT00940000153251
HOVERGENiHBG048718
InParanoidiQ8TD31
KOiK16760
OMAiHTIRGLM
OrthoDBi1046571at2759
PhylomeDBiQ8TD31
TreeFamiTF336947

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CCHCR1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CCHCR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54535

Protein Ontology

More...
PROi
PR:Q8TD31

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204536 Expressed in 207 organ(s), highest expression level in testis
CleanExiHS_CCHCR1
ExpressionAtlasiQ8TD31 baseline and differential
GenevisibleiQ8TD31 HS

Family and domain databases

InterProiView protein in InterPro
IPR009800 HCR
PANTHERiPTHR23161:SF5 PTHR23161:SF5, 1 hit
PfamiView protein in Pfam
PF07111 HCR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCCHCR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TD31
Secondary accession number(s): A2ABH6
, E9PE84, Q2TB67, Q5SQ82, Q5STE9, Q9NRK8, Q9NWY9, Q9NXJ4, Q9NXK3, Q9Y6W1, Q9Y6W2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: February 16, 2004
Last modified: January 16, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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