Details for: AMMECR1

Gene ID: 9949

Symbol: AMMECR1

Ensembl ID: ENSG00000101935

Description: AMMECR nuclear protein 1

Associated with

Other Information

Genular Protein ID: 885452989

Symbol: AMMR1_HUMAN

Name: AMME syndrome candidate gene 1 protein

UniProtKB Accession Codes:

Q9Y4X0 Q5JYV9 Q6P9D8 Q8WX22 Q9UIQ8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 29 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 3 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 RefSeq 3 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10049589

Title: Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

PubMed ID: 10049589

DOI: 10.1006/geno.1998.5666

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28089922

Title: X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

PubMed ID: 28089922

DOI: 10.1016/j.gene.2017.01.001

PubMed ID: 27811305

Title: AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

PubMed ID: 27811305

DOI: 10.1136/jmedgenet-2016-104100

Sequence Information:

  • Length: 333
  • Mass: 35463
  • Checksum: CE3942EFD6E55A8D
  • Sequence:
    • MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 
GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 
SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS 
AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR 
IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE 
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS

Genular Protein ID: 2655253050

Symbol: A0A0S2Z4V0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4V0

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 ChiTaRS 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GO 2 GenomeRNAi 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 Pfam 1 RefSeq 1 SAM 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 296
  • Mass: 31255
  • Checksum: 94B885A0007F8A09
  • Sequence:
    • MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 
GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 
SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYAL KDSRFPPMTR DELPRLFCSV 
SLLTNFEDVC DYLDWEVGVH GIRIEFINEK GSKRTATYLP EVAKEQGWDH IQTIDSLLRK 
GGYKAPITNE FRKTIKLTRY RSEKMTLSYA EYLAHRQHHH FQNGIGHPLP PYNHYS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.