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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-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
AMME syndrome candidate gene 1 protein
Gene namesi
Name:AMMECR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:467. AMMECR1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.
See also OMIM:300990
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078027177G → D in MFHIEN; creates a novel nonuniform expression pattern in the nucleus. 1 Publication1
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.
See also OMIM:300194

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi9949.
MalaCardsiAMMECR1.
MIMi300194. phenotype.
300990. phenotype.
OpenTargetsiENSG00000101935.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA24772.

Polymorphism and mutation databases

BioMutaiAMMECR1.
DMDMi48475039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001423661 – 333AMME syndrome candidate gene 1 proteinAdd BLAST333

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei16PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y4X0.
PaxDbiQ9Y4X0.
PeptideAtlasiQ9Y4X0.
PRIDEiQ9Y4X0.

PTM databases

iPTMnetiQ9Y4X0.
PhosphoSitePlusiQ9Y4X0.

Expressioni

Gene expression databases

BgeeiENSG00000101935.
CleanExiHS_AMMECR1.
ExpressionAtlasiQ9Y4X0. baseline and differential.
GenevisibleiQ9Y4X0. HS.

Organism-specific databases

HPAiHPA000590.
HPA051762.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115274. 11 interactors.
IntActiQ9Y4X0. 17 interactors.
MINTiMINT-3086664.
STRINGi9606.ENSP00000262844.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4X0.
SMRiQ9Y4X0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini119 – 313AMMECR1PROSITE-ProRule annotationAdd BLAST195

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi20 – 82Gly/Ser-richAdd BLAST63
Compositional biasi105 – 121Ser-richAdd BLAST17

Phylogenomic databases

eggNOGiKOG3274. Eukaryota.
COG2078. LUCA.
GeneTreeiENSGT00390000010397.
HOGENOMiHOG000223418.
HOVERGENiHBG056408.
InParanoidiQ9Y4X0.
OMAiDCSKMAA.
OrthoDBiEOG091G0M06.
PhylomeDBiQ9Y4X0.
TreeFamiTF314680.

Family and domain databases

Gene3Di3.30.700.20. 1 hit.
InterProiView protein in InterPro
IPR023473. AMMECR1.
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.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4X0-1) [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
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
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 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.656243.

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiAMMR1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q5JYV9
, Q6P9D8, Q8WX22, Q9UIQ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 1, 1999
Last modified: June 7, 2017
This is version 125 of the entry and version 1 of the sequence. See complete history.
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.

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