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Q9Y4X0

- AMMR1_HUMAN

UniProt

Q9Y4X0 - AMMR1_HUMAN

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Protein
AMME syndrome candidate gene 1 protein
Gene
AMMECR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
AMME syndrome candidate gene 1 protein
Gene namesi
Name:AMMECR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:467. AMMECR1.

Pathology & Biotechi

Involvement in diseasei

Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
Note: The gene represented in this entry may be involved in disease pathogenesis.

Keywords - Diseasei

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

Organism-specific databases

MIMi300194. phenotype.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA24772.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 333333AMME syndrome candidate gene 1 protein
PRO_0000142366Add
BLAST

Proteomic databases

MaxQBiQ9Y4X0.
PaxDbiQ9Y4X0.
PRIDEiQ9Y4X0.

PTM databases

PhosphoSiteiQ9Y4X0.

Expressioni

Gene expression databases

BgeeiQ9Y4X0.
CleanExiHS_AMMECR1.
GenevestigatoriQ9Y4X0.

Organism-specific databases

HPAiHPA051762.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Axin1O702393EBI-8583355,EBI-6857773From a different organism.
csnk1g1Q6NRT02EBI-8583355,EBI-8583566From a different organism.
LRP6O755815EBI-8583355,EBI-910915

Protein-protein interaction databases

BioGridi115274. 2 interactions.
IntActiQ9Y4X0. 8 interactions.
MINTiMINT-3086664.
STRINGi9606.ENSP00000262844.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4X0.
SMRiQ9Y4X0. Positions 161-266.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini119 – 313195AMMECR1
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi20 – 8263Gly/Ser-rich
Add
BLAST
Compositional biasi105 – 12117Ser-rich
Add
BLAST

Sequence similaritiesi

Contains 1 AMMECR1 domain.

Phylogenomic databases

eggNOGiCOG2078.
HOGENOMiHOG000223418.
HOVERGENiHBG056408.
InParanoidiQ9Y4X0.
OMAiANVSRAN.
OrthoDBiEOG7PVWQN.
PhylomeDBiQ9Y4X0.
TreeFamiTF314680.

Family and domain databases

Gene3Di3.30.700.20. 1 hit.
InterProiIPR023473. AMMECR1.
IPR002733. AMMECR1_domain.
IPR027485. AMMECR1_N.
[Graphical view]
PANTHERiPTHR13016. PTHR13016. 1 hit.
PfamiPF01871. AMMECR1. 1 hit.
[Graphical view]
SUPFAMiSSF143447. SSF143447. 1 hit.
TIGRFAMsiTIGR00296. TIGR00296. 1 hit.
PROSITEiPS51112. AMMECR1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG    50
TRLNGLGGLT GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP 100
AAATSSSPSS SSAASSSSPG SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT 150
PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS AMNLHSGLRE YTLTSALKDS 200
RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR IEFINEKGSK 250
RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE 300
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS 333
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 123123Missing in isoform 4.
VSP_044229Add
BLAST
Alternative sequencei158 – 333176Missing in isoform 2.
VSP_008516Add
BLAST
Alternative sequencei159 – 19537Missing in isoform 3.
VSP_017058Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q9Y4X0-1]
uc004eop.3. human. [Q9Y4X0-3]

Polymorphism databases

DMDMi48475039.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14551.1. [Q9Y4X0-1 ]
CCDS35368.1. [Q9Y4X0-3 ]
CCDS55476.1. [Q9Y4X0-4 ]
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 ]
UniGenei Hs.656243.

3D structure databases

ProteinModelPortali Q9Y4X0.
SMRi Q9Y4X0. Positions 161-266.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115274. 2 interactions.
IntActi Q9Y4X0. 8 interactions.
MINTi MINT-3086664.
STRINGi 9606.ENSP00000262844.

PTM databases

PhosphoSitei Q9Y4X0.

Polymorphism databases

DMDMi 48475039.

Proteomic databases

MaxQBi Q9Y4X0.
PaxDbi Q9Y4X0.
PRIDEi Q9Y4X0.

Protocols and materials databases

DNASUi 9949.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262844 ; ENSP00000262844 ; ENSG00000101935 . [Q9Y4X0-1 ]
ENST00000372057 ; ENSP00000361127 ; ENSG00000101935 . [Q9Y4X0-4 ]
ENST00000372059 ; ENSP00000361129 ; ENSG00000101935 . [Q9Y4X0-3 ]
GeneIDi 9949.
KEGGi hsa:9949.
UCSCi uc004eoo.3. human. [Q9Y4X0-1 ]
uc004eop.3. human. [Q9Y4X0-3 ]

Organism-specific databases

CTDi 9949.
GeneCardsi GC0XM109437.
HGNCi HGNC:467. AMMECR1.
HPAi HPA051762.
MIMi 300194. phenotype.
300195. gene.
neXtProti NX_Q9Y4X0.
Orphaneti 86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBi PA24772.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2078.
HOGENOMi HOG000223418.
HOVERGENi HBG056408.
InParanoidi Q9Y4X0.
OMAi ANVSRAN.
OrthoDBi EOG7PVWQN.
PhylomeDBi Q9Y4X0.
TreeFami TF314680.

Miscellaneous databases

GenomeRNAii 9949.
NextBioi 37540.
PROi Q9Y4X0.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y4X0.
CleanExi HS_AMMECR1.
Genevestigatori Q9Y4X0.

Family and domain databases

Gene3Di 3.30.700.20. 1 hit.
InterProi IPR023473. AMMECR1.
IPR002733. AMMECR1_domain.
IPR027485. AMMECR1_N.
[Graphical view ]
PANTHERi PTHR13016. PTHR13016. 1 hit.
Pfami PF01871. AMMECR1. 1 hit.
[Graphical view ]
SUPFAMi SSF143447. SSF143447. 1 hit.
TIGRFAMsi TIGR00296. TIGR00296. 1 hit.
PROSITEi PS51112. AMMECR1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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)."
    Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B., Jonsson J., Sorrentino V., Renieri A.
    Genomics 55:335-340(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Brain.
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Placenta.

Entry informationi

Entry nameiAMMR1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q5JYV9
, Q6P9D8, Q8WX22, Q9UIQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 101 of the entry and version 1 of the sequence. [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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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