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Entry version 126 (07 Apr 2021)
Sequence version 4 (29 Apr 2015)
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Protein

Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase

Gene

CMAHP

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

Annotation score:4 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

Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979).3 Publications2 Publications

Caution

An Alu-mediated mutation of this gene occured in a common ancestor of Homo sapiens and Homo sapiens neanderthalis, approximately 2.1-2.2 million years ago, before brain expansion. It is generally accepted that the product of this gene, if any, is catalytically inactive as suggested by the absence of CMP-Neu5Gc sialic acid in human, while it is abundantly expressed at the surface of many cells in other vertebrates. The gene is however, significantly transcribed and the product described here might be expressed in vivo (PubMed:19890979). The putative protein is N-terminally truncated compared to orthologs and lacks a region probably essential to the CMP-N-acetylneuraminate monooxygenase activity.4 Publications1 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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.18.2, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y471

<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:
Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase1 Publication
Short name:
CMP-NeuAc hydroxylase-like protein
Alternative name(s):
Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene
<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:CMAHP
Synonyms:CMAH
<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: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2098, CMAHP

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603209, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y471

<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

<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

<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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y471, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HGNC:2098

Domain mapping of disease mutations (DMDM)

More...
DMDMi
223590237

<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_00001278011 – 501Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylaseAdd BLAST501

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y471

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

More...
PaxDbi
Q9Y471

PeptideAtlas

More...
PeptideAtlasi
Q9Y471

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y471

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
86120

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y471

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

More...
PhosphoSitePlusi
Q9Y471

<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

Widely expressed. Highly expressed in thymus. Not expressed in brain. May be expressed in adult stem cells (at protein level) (PubMed:19890979).2 Publications

<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

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q9Y471, 1 interactor

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y471, 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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CMP-Neu5Ac hydroxylase family.Curated

Phylogenomic databases

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y471

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y471

TreeFam database of animal gene trees

More...
TreeFami
TF331273

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.60.15.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027033, Cnh
IPR036866, RibonucZ/Hydroxyglut_hydro

The PANTHER Classification System

More...
PANTHERi
PTHR46522, PTHR46522, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56281, SSF56281, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51296, RIESKE, 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
Isoform 1 (identifier: Q9Y471-1) [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
MDENNGLLLL ELNPPNPWDL QPRSPEELAF GEVQITYLTH ACMDLKLGDK
60 70 80 90 100
RMVFDPWLIG PAFARGWWLL HEPPSDWLER LCQADLIYIS HLHSDHLSYP
110 120 130 140 150
TLKKLAGRRP DIPIYVGNTE RPVFWNLNQS GVQLTNINVV PFGIWQQVDK
160 170 180 190 200
NLRFMILMDG VHPEMDTCII VEYKGHKILN IVDCTRPNGG RLPMKVALMM
210 220 230 240 250
SDFAGGASGF PMTFSGGKFT EEWKAQFIKT ERKKLLNYKA RLVKNLQPRI
260 270 280 290 300
YCPFAGYFVE SHPSDKYIKE TNTKNDPNEL NNLIKKNSDV ITWTPRPGAT
310 320 330 340 350
LDLGRMLKDR TDSKGIIEPP EGTKIYKDSW DFEPYLEILN AALGDEIFLH
360 370 380 390 400
SSWIKEYFTW AGFKDYNLVV RMIETDEDFN PFPGGYDYLV DFLDLSFPKE
410 420 430 440 450
RPQREHPYEE IHSRVDVIRH VVKNGLLWDE LYIGFQTRLQ RDPDIYHHLF
460 470 480 490 500
WNHFQIKLPL TPPNWKSFLM CCEQNGPVIL QFSTERTNEP NRNKFSVENK

A
Length:501
Mass (Da):58,380
Last modified:April 29, 2015 - v4
<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:i7C340A121B5ACA4D
GO
Isoform 2 (identifier: Q9Y471-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-486: VILQFSTER → AILQECKTT
     487-501: Missing.

Show »
Length:486
Mass (Da):56,564
Checksum:i5C6B710F64F85CDD
GO

<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 AAC68881 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.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 conflicti87I → V in BAA31160 (PubMed:9624188).Curated1
Sequence conflicti181I → T in BAA31160 (PubMed:9624188).Curated1
Sequence conflicti241R → W in BAA31160 (PubMed:9624188).Curated1
Sequence conflicti310R → P in BAA31160 (PubMed:9624188).Curated1
Sequence conflicti478V → A in ACN93797 (PubMed:19890979).Curated1
Sequence conflicti478V → A in AAC68881 (PubMed:9751737).Curated1

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_057565478 – 486VILQFSTER → AILQECKTT in isoform 2. 9
Alternative sequenceiVSP_057566487 – 501Missing in isoform 2. Add BLAST15

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
AF074480 mRNA Translation: AAC68881.1 Sequence problems.
FJ794466 mRNA Translation: ACN93797.1
AL133268 Genomic DNA No translation available.
AB009668 Genomic DNA Translation: BAA31198.1
D86324 mRNA Translation: BAA31160.1

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF074480 mRNA Translation: AAC68881.1 Sequence problems.
FJ794466 mRNA Translation: ACN93797.1
AL133268 Genomic DNA No translation available.
AB009668 Genomic DNA Translation: BAA31198.1
D86324 mRNA Translation: BAA31160.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

IntActiQ9Y471, 1 interactor

PTM databases

iPTMnetiQ9Y471
PhosphoSitePlusiQ9Y471

Genetic variation databases

BioMutaiHGNC:2098
DMDMi223590237

Proteomic databases

MassIVEiQ9Y471
PaxDbiQ9Y471
PeptideAtlasiQ9Y471
PRIDEiQ9Y471
ProteomicsDBi86120

Organism-specific databases

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CMAHP
HGNCiHGNC:2098, CMAHP
MIMi603209, gene
neXtProtiNX_Q9Y471

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

InParanoidiQ9Y471
PhylomeDBiQ9Y471
TreeFamiTF331273

Enzyme and pathway databases

BRENDAi1.14.18.2, 2681
PathwayCommonsiQ9Y471

Miscellaneous databases

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

More...
ChiTaRSi
CMAHP, human
PharosiQ9Y471, Tbio

Protein Ontology

More...
PROi
PR:Q9Y471
RNActiQ9Y471, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR027033, Cnh
IPR036866, RibonucZ/Hydroxyglut_hydro
PANTHERiPTHR46522, PTHR46522, 1 hit
SUPFAMiSSF56281, SSF56281, 1 hit
PROSITEiView protein in PROSITE
PS51296, RIESKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiCMAH_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: Q9Y471
Secondary accession number(s): C1K3L2
, O95250, Q5TD41, Q5TD42, Q5TD43, Q5TD44, Q68DC3, Q9UEE7
<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: May 10, 2005
Last sequence update: April 29, 2015
Last modified: April 7, 2021
This is version 126 of the entry and version 4 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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
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