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Entry version 133 (17 Jun 2020)
Sequence version 2 (09 Jan 2007)
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Protein

Protein C15orf41

Gene

C15orf41

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

Plays a role in erythroid cell differentiation.1 Publication

Caution

Based on sequence similarity, it has been suggested that C15orf41 might encode a divalent metal-ion dependent restriction endonuclease, although nuclease activity could not be experimentally proven.1 Publication

<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 - Biological processi

  • erythrocyte differentiation Source: UniProtKB

<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%5Fand%5Ftaxonomy%5Fsection">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:
Protein C15orf41Curated
Alternative name(s):
Protein HH114
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:C15orf41Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000186073.11

Human Gene Nomenclature Database

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HGNCi
HGNC:26929 C15orf41

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615626 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y2V0

<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 & Seán O’Donoghue; Source: COMPARTMENTS

<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>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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Anemia, congenital dyserythropoietic, 1B (CDAN1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.
Related information in OMIM
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_08203720P → R in CDAN1B; unknown pathological significance. 1 Publication1
Natural variantiVAR_07087694Y → C in CDAN1B. 1 PublicationCorresponds to variant dbSNP:rs587777101EnsemblClinVar.1
Natural variantiVAR_08203894Y → S in CDAN1B; no effect on gene expression and protein level; impaired erythroid cell differentiation; no effect on nuclear and cytoplasmic location. 1 PublicationCorresponds to variant dbSNP:rs587777101EnsemblClinVar.1
Natural variantiVAR_070877178L → Q in CDAN1B. 1 PublicationCorresponds to variant dbSNP:rs587777100EnsemblClinVar.1
Natural variantiVAR_082039230H → P in CDAN1B; reduced gene expression and protein level; impaired erythroid cell differentiation; increased S-phase of the cell-cycle; no effect on nuclear and cytoplasmic location. 1 Publication1
Natural variantiVAR_082040236Y → C in CDAN1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768744226Ensembl.1

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
84529

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
C15orf41

MalaCards human disease database

More...
MalaCardsi
C15orf41
MIMi615631 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000186073

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98869 Congenital dyserythropoietic anemia type I

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672277

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2V0 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C15orf41

Domain mapping of disease mutations (DMDM)

More...
DMDMi
122063330

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002710441 – 281Protein C15orf41Add BLAST281

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei114PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y2V0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y2V0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y2V0

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

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PaxDbi
Q9Y2V0

PeptideAtlas

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PeptideAtlasi
Q9Y2V0

PRoteomics IDEntifications database

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PRIDEi
Q9Y2V0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85907 [Q9Y2V0-1]
85908 [Q9Y2V0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y2V0

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

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PhosphoSitePlusi
Q9Y2V0

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000186073 Expressed in myocardium and 180 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y2V0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y2V0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000186073 Tissue enriched (heart)

<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%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124120, 11 interactors

Protein interaction database and analysis system

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IntActi
Q9Y2V0, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000455397

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9Y2V0 protein

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHV7 Eukaryota
ENOG410ZQKM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018465

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_076808_0_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y2V0

Database of Orthologous Groups

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OrthoDBi
1476922at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y2V0

TreeFam database of animal gene trees

More...
TreeFami
TF324079

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029404 C15orf41

The PANTHER Classification System

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PANTHERi
PTHR31661 PTHR31661, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14811 TPD, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2V0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK
60 70 80 90 100
HIKRTHAKHH TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA
110 120 130 140 150
RLILERFLQE HEETPPSKSI INSMLRDPSQ IPDGVLANQV YQCIVNDCCY
160 170 180 190 200
GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF LDEDQLRAKG YDKTPDFILQ
210 220 230 240 250
VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF GPGLVIYWYG
260 270 280
FIQELDCNRE RGILLKACFP TNIVTLCHSI A
Length:281
Mass (Da):32,264
Last modified:January 9, 2007 - 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:i1DB9D466A61FE804
GO
Isoform 2 (identifier: Q9Y2V0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Show »
Length:183
Mass (Da):21,109
Checksum:i079603A83982B202
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTL3H3BTL3_HUMAN
Protein C15orf41
C15orf41
101Annotation 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>
H3BS01H3BS01_HUMAN
Protein C15orf41
C15orf41
287Annotation 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>
H3BNF9H3BNF9_HUMAN
Protein C15orf41
C15orf41
122Annotation 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>
H3BMD3H3BMD3_HUMAN
Protein C15orf41
C15orf41
105Annotation 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>
A0A2R8Y7J6A0A2R8Y7J6_HUMAN
Protein C15orf41
C15orf41
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>
A0A2R8YD89A0A2R8YD89_HUMAN
Protein C15orf41
C15orf41
286Annotation 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>
A0A2R8YEZ2A0A2R8YEZ2_HUMAN
Protein C15orf41
C15orf41
208Annotation 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>
A0A2R8YEF3A0A2R8YEF3_HUMAN
Protein C15orf41
C15orf41
133Annotation 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>
A0A2R8YDB2A0A2R8YDB2_HUMAN
Protein C15orf41
C15orf41
42Annotation 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>
A0A2R8YEW7A0A2R8YEW7_HUMAN
Protein C15orf41
C15orf41
57Annotation 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>

<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 AAH06254 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08203720P → R in CDAN1B; unknown pathological significance. 1 Publication1
Natural variantiVAR_05962273L → V. Corresponds to variant dbSNP:rs3784678EnsemblClinVar.1
Natural variantiVAR_07087694Y → C in CDAN1B. 1 PublicationCorresponds to variant dbSNP:rs587777101EnsemblClinVar.1
Natural variantiVAR_08203894Y → S in CDAN1B; no effect on gene expression and protein level; impaired erythroid cell differentiation; no effect on nuclear and cytoplasmic location. 1 PublicationCorresponds to variant dbSNP:rs587777101EnsemblClinVar.1
Natural variantiVAR_070877178L → Q in CDAN1B. 1 PublicationCorresponds to variant dbSNP:rs587777100EnsemblClinVar.1
Natural variantiVAR_082039230H → P in CDAN1B; reduced gene expression and protein level; impaired erythroid cell differentiation; increased S-phase of the cell-cycle; no effect on nuclear and cytoplasmic location. 1 Publication1
Natural variantiVAR_082040236Y → C in CDAN1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768744226Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0222711 – 98Missing in isoform 2. 2 PublicationsAdd BLAST98

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF114263 mRNA Translation: AAD29606.1
AK315446 mRNA Translation: BAG37834.1
CH471125 Genomic DNA Translation: EAW92337.1
BC006254 mRNA Translation: AAH06254.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS45215.1 [Q9Y2V0-1]
CCDS45216.1 [Q9Y2V0-2]

NCBI Reference Sequences

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RefSeqi
NP_001123482.1, NM_001130010.2 [Q9Y2V0-1]
NP_001277161.1, NM_001290232.1 [Q9Y2V0-2]
NP_001277162.1, NM_001290233.1
NP_001308685.1, NM_001321756.1 [Q9Y2V0-2]
NP_001308688.1, NM_001321759.1 [Q9Y2V0-1]
NP_115888.1, NM_032499.5 [Q9Y2V0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000338183; ENSP00000342433; ENSG00000186073 [Q9Y2V0-2]
ENST00000437989; ENSP00000401362; ENSG00000186073 [Q9Y2V0-1]
ENST00000562877; ENSP00000457854; ENSG00000186073 [Q9Y2V0-2]
ENST00000566621; ENSP00000455397; ENSG00000186073 [Q9Y2V0-1]
ENST00000567389; ENSP00000456736; ENSG00000186073 [Q9Y2V0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84529

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84529

UCSC genome browser

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UCSCi
uc001zje.5 human [Q9Y2V0-1]

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
AF114263 mRNA Translation: AAD29606.1
AK315446 mRNA Translation: BAG37834.1
CH471125 Genomic DNA Translation: EAW92337.1
BC006254 mRNA Translation: AAH06254.1 Different initiation.
CCDSiCCDS45215.1 [Q9Y2V0-1]
CCDS45216.1 [Q9Y2V0-2]
RefSeqiNP_001123482.1, NM_001130010.2 [Q9Y2V0-1]
NP_001277161.1, NM_001290232.1 [Q9Y2V0-2]
NP_001277162.1, NM_001290233.1
NP_001308685.1, NM_001321756.1 [Q9Y2V0-2]
NP_001308688.1, NM_001321759.1 [Q9Y2V0-1]
NP_115888.1, NM_032499.5 [Q9Y2V0-2]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124120, 11 interactors
IntActiQ9Y2V0, 3 interactors
STRINGi9606.ENSP00000455397

PTM databases

iPTMnetiQ9Y2V0
PhosphoSitePlusiQ9Y2V0

Polymorphism and mutation databases

BioMutaiC15orf41
DMDMi122063330

Proteomic databases

EPDiQ9Y2V0
jPOSTiQ9Y2V0
MassIVEiQ9Y2V0
PaxDbiQ9Y2V0
PeptideAtlasiQ9Y2V0
PRIDEiQ9Y2V0
ProteomicsDBi85907 [Q9Y2V0-1]
85908 [Q9Y2V0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
53071 123 antibodies

The DNASU plasmid repository

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DNASUi
84529

Genome annotation databases

EnsembliENST00000338183; ENSP00000342433; ENSG00000186073 [Q9Y2V0-2]
ENST00000437989; ENSP00000401362; ENSG00000186073 [Q9Y2V0-1]
ENST00000562877; ENSP00000457854; ENSG00000186073 [Q9Y2V0-2]
ENST00000566621; ENSP00000455397; ENSG00000186073 [Q9Y2V0-1]
ENST00000567389; ENSP00000456736; ENSG00000186073 [Q9Y2V0-2]
GeneIDi84529
KEGGihsa:84529
UCSCiuc001zje.5 human [Q9Y2V0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84529
DisGeNETi84529
EuPathDBiHostDB:ENSG00000186073.11

GeneCards: human genes, protein and diseases

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GeneCardsi
C15orf41
GeneReviewsiC15orf41
HGNCiHGNC:26929 C15orf41
HPAiENSG00000186073 Tissue enriched (heart)
MalaCardsiC15orf41
MIMi615626 gene
615631 phenotype
neXtProtiNX_Q9Y2V0
OpenTargetsiENSG00000186073
Orphaneti98869 Congenital dyserythropoietic anemia type I
PharmGKBiPA142672277

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IHV7 Eukaryota
ENOG410ZQKM LUCA
GeneTreeiENSGT00390000018465
HOGENOMiCLU_076808_0_1_1
InParanoidiQ9Y2V0
OrthoDBi1476922at2759
PhylomeDBiQ9Y2V0
TreeFamiTF324079

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
84529 150 hits in 781 CRISPR screens

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

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ChiTaRSi
C15orf41 human

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

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GenomeRNAii
84529
PharosiQ9Y2V0 Tdark

Protein Ontology

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PROi
PR:Q9Y2V0
RNActiQ9Y2V0 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000186073 Expressed in myocardium and 180 other tissues
ExpressionAtlasiQ9Y2V0 baseline and differential
GenevisibleiQ9Y2V0 HS

Family and domain databases

InterProiView protein in InterPro
IPR029404 C15orf41
PANTHERiPTHR31661 PTHR31661, 1 hit
PfamiView protein in Pfam
PF14811 TPD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiCO041_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: Q9Y2V0
Secondary accession number(s): B2RD87
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: June 17, 2020
This is version 133 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

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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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