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Entry version 147 (13 Nov 2019)
Sequence version 1 (01 Nov 1999)
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Protein

AMME syndrome candidate gene 1 protein

Gene

AMMECR1

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 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:
AMME syndrome candidate gene 1 protein
<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:AMMECR1
<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 X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:467 AMMECR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300195 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y4X0

<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

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

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay.
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_078027177G → D in MFHIEN; creates a novel nonuniform expression pattern in the nucleus. 1 PublicationCorresponds to variant dbSNP:rs1057519337EnsemblClinVar.1
Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
Related information in OMIM

Keywords - Diseasei

Alport syndrome, Deafness, Disease mutation, Elliptocytosis, Hereditary hemolytic anemia, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9949

MalaCards human disease database

More...
MalaCardsi
AMMECR1
MIMi300194 phenotype
300990 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101935

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

More...
Orphaneti
86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24772

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y4X0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMMECR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48475039

<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_00001423661 – 333AMME syndrome candidate gene 1 proteinAdd BLAST333

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 residuei16PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y4X0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y4X0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y4X0

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

More...
PaxDbi
Q9Y4X0

PeptideAtlas

More...
PeptideAtlasi
Q9Y4X0

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y4X0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
63517
86255 [Q9Y4X0-1]
86256 [Q9Y4X0-2]
86257 [Q9Y4X0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y4X0

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

More...
PhosphoSitePlusi
Q9Y4X0

<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

More...
Bgeei
ENSG00000101935 Expressed in 203 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y4X0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y4X0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000590
HPA051762

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115274, 19 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y4X0, 27 interactors

Molecular INTeraction database

More...
MINTi
Q9Y4X0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262844

<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

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

More...
SMRi
Q9Y4X0

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini119 – 313AMMECR1PROSITE-ProRule annotationAdd BLAST195

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 82Gly/Ser-richAdd BLAST63
Compositional biasi105 – 121Ser-richAdd BLAST17

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3274 Eukaryota
COG2078 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000010397

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000223418

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y4X0

Identification of Orthologs from Complete Genome Data

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OMAi
MSYAEYI

Database of Orthologous Groups

More...
OrthoDBi
1274811at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y4X0

TreeFam database of animal gene trees

More...
TreeFami
TF314680

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.700.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR023473 AMMECR1
IPR036071 AMMECR1_dom_sf
IPR002733 AMMECR1_domain
IPR027485 AMMECR1_N

The PANTHER Classification System

More...
PANTHERi
PTHR13016 PTHR13016, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01871 AMMECR1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF143447 SSF143447, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00296 TIGR00296, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51112 AMMECR1, 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>. 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 (4)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 4 <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
Isoform 1 (identifier: Q9Y4X0-1) [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
MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG
60 70 80 90 100
TRLNGLGGLT GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP
110 120 130 140 150
AAATSSSPSS SSAASSSSPG SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT
160 170 180 190 200
PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS AMNLHSGLRE YTLTSALKDS
210 220 230 240 250
RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR IEFINEKGSK
260 270 280 290 300
RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE
310 320 330
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS
Length:333
Mass (Da):35,463
Last modified:November 1, 1999 - v1
<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:iCE3942EFD6E55A8D
GO
Isoform 2 (identifier: Q9Y4X0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     158-333: Missing.

Show »
Length:157
Mass (Da):14,932
Checksum:iDA197EC01872D3F5
GO
Isoform 3 (identifier: Q9Y4X0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-195: Missing.

Note: No experimental confirmation available.
Show »
Length:296
Mass (Da):31,255
Checksum:i94B885A0007F8A09
GO
Isoform 4 (identifier: Q9Y4X0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.

Show »
Length:210
Mass (Da):24,581
Checksum:i1AB6F3351879FA49
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078027177G → D in MFHIEN; creates a novel nonuniform expression pattern in the nucleus. 1 PublicationCorresponds to variant dbSNP:rs1057519337EnsemblClinVar.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_0442291 – 123Missing in isoform 4. 1 PublicationAdd BLAST123
Alternative sequenceiVSP_008516158 – 333Missing in isoform 2. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_017058159 – 195Missing in isoform 3. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ007014 mRNA Translation: CAB45546.1
AK091430 mRNA Translation: BAG52359.1
AJ012221
, AJ012222, AJ012223, AJ012224, AJ012225, AJ012226 Genomic DNA Translation: CAB58122.1
AJ012221, AJ012227 Genomic DNA Translation: CAB58123.1
AL079334, AL031319, AL359079 Genomic DNA Translation: CAI42537.1
AL079334, AL031319, AL359079 Genomic DNA Translation: CAI42538.1
AL359079, AL031319, AL079334 Genomic DNA Translation: CAI41539.1
AL359079, AL031319, AL079334 Genomic DNA Translation: CAI41540.1
AL031319, AL079334, AL359079 Genomic DNA Translation: CAI42703.1
AL031319, AL079334, AL359079 Genomic DNA Translation: CAI42704.1
BC060813 mRNA Translation: AAH60813.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14551.1 [Q9Y4X0-1]
CCDS35368.1 [Q9Y4X0-3]
CCDS55476.1 [Q9Y4X0-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001020751.1, NM_001025580.1 [Q9Y4X0-3]
NP_001165160.1, NM_001171689.1 [Q9Y4X0-4]
NP_056180.1, NM_015365.2 [Q9Y4X0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262844; ENSP00000262844; ENSG00000101935 [Q9Y4X0-1]
ENST00000372057; ENSP00000361127; ENSG00000101935 [Q9Y4X0-4]
ENST00000372059; ENSP00000361129; ENSG00000101935 [Q9Y4X0-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9949

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9949

UCSC genome browser

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UCSCi
uc004eoo.4 human [Q9Y4X0-1]

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
AJ007014 mRNA Translation: CAB45546.1
AK091430 mRNA Translation: BAG52359.1
AJ012221
, AJ012222, AJ012223, AJ012224, AJ012225, AJ012226 Genomic DNA Translation: CAB58122.1
AJ012221, AJ012227 Genomic DNA Translation: CAB58123.1
AL079334, AL031319, AL359079 Genomic DNA Translation: CAI42537.1
AL079334, AL031319, AL359079 Genomic DNA Translation: CAI42538.1
AL359079, AL031319, AL079334 Genomic DNA Translation: CAI41539.1
AL359079, AL031319, AL079334 Genomic DNA Translation: CAI41540.1
AL031319, AL079334, AL359079 Genomic DNA Translation: CAI42703.1
AL031319, AL079334, AL359079 Genomic DNA Translation: CAI42704.1
BC060813 mRNA Translation: AAH60813.1
CCDSiCCDS14551.1 [Q9Y4X0-1]
CCDS35368.1 [Q9Y4X0-3]
CCDS55476.1 [Q9Y4X0-4]
RefSeqiNP_001020751.1, NM_001025580.1 [Q9Y4X0-3]
NP_001165160.1, NM_001171689.1 [Q9Y4X0-4]
NP_056180.1, NM_015365.2 [Q9Y4X0-1]

3D structure databases

SMRiQ9Y4X0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115274, 19 interactors
IntActiQ9Y4X0, 27 interactors
MINTiQ9Y4X0
STRINGi9606.ENSP00000262844

PTM databases

iPTMnetiQ9Y4X0
PhosphoSitePlusiQ9Y4X0

Polymorphism and mutation databases

BioMutaiAMMECR1
DMDMi48475039

Proteomic databases

EPDiQ9Y4X0
jPOSTiQ9Y4X0
MassIVEiQ9Y4X0
PaxDbiQ9Y4X0
PeptideAtlasiQ9Y4X0
PRIDEiQ9Y4X0
ProteomicsDBi63517
86255 [Q9Y4X0-1]
86256 [Q9Y4X0-2]
86257 [Q9Y4X0-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9949

Genome annotation databases

EnsembliENST00000262844; ENSP00000262844; ENSG00000101935 [Q9Y4X0-1]
ENST00000372057; ENSP00000361127; ENSG00000101935 [Q9Y4X0-4]
ENST00000372059; ENSP00000361129; ENSG00000101935 [Q9Y4X0-3]
GeneIDi9949
KEGGihsa:9949
UCSCiuc004eoo.4 human [Q9Y4X0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9949
DisGeNETi9949

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMMECR1
HGNCiHGNC:467 AMMECR1
HPAiHPA000590
HPA051762
MalaCardsiAMMECR1
MIMi300194 phenotype
300195 gene
300990 phenotype
neXtProtiNX_Q9Y4X0
OpenTargetsiENSG00000101935
Orphaneti86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
PharmGKBiPA24772

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3274 Eukaryota
COG2078 LUCA
GeneTreeiENSGT00390000010397
HOGENOMiHOG000223418
InParanoidiQ9Y4X0
OMAiMSYAEYI
OrthoDBi1274811at2759
PhylomeDBiQ9Y4X0
TreeFamiTF314680

Miscellaneous databases

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

More...
ChiTaRSi
AMMECR1 human

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

More...
GenomeRNAii
9949
PharosiQ9Y4X0

Protein Ontology

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PROi
PR:Q9Y4X0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
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Gene expression databases

BgeeiENSG00000101935 Expressed in 203 organ(s), highest expression level in liver
ExpressionAtlasiQ9Y4X0 baseline and differential
GenevisibleiQ9Y4X0 HS

Family and domain databases

Gene3Di3.30.700.20, 1 hit
InterProiView protein in InterPro
IPR023473 AMMECR1
IPR036071 AMMECR1_dom_sf
IPR002733 AMMECR1_domain
IPR027485 AMMECR1_N
PANTHERiPTHR13016 PTHR13016, 1 hit
PfamiView protein in Pfam
PF01871 AMMECR1, 1 hit
SUPFAMiSSF143447 SSF143447, 1 hit
TIGRFAMsiTIGR00296 TIGR00296, 1 hit
PROSITEiView protein in PROSITE
PS51112 AMMECR1, 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 nameiAMMR1_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: Q9Y4X0
Secondary accession number(s): Q5JYV9
, Q6P9D8, Q8WX22, Q9UIQ8
<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: October 10, 2003
Last sequence update: November 1, 1999
Last modified: November 13, 2019
This is version 147 of the entry and version 1 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 chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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