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Q9Y4X0 (AMMR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AMME syndrome candidate gene 1 protein
Gene names
Name:AMMECR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Involvement in disease

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.

Sequence similarities

Contains 1 AMMECR1 domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Axin1O702393EBI-8583355,EBI-6857773From a different organism.
csnk1g1Q6NRT02EBI-8583355,EBI-8583566From a different organism.
LRP6O755815EBI-8583355,EBI-910915

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y4X0-1)

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.
Isoform 2 (identifier: Q9Y4X0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     158-333: Missing.
Isoform 3 (identifier: Q9Y4X0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     159-195: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9Y4X0-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 333333AMME syndrome candidate gene 1 protein
PRO_0000142366

Regions

Domain119 – 313195AMMECR1
Compositional bias20 – 8263Gly/Ser-rich
Compositional bias105 – 12117Ser-rich

Natural variations

Alternative sequence1 – 123123Missing in isoform 4.
VSP_044229
Alternative sequence158 – 333176Missing in isoform 2.
VSP_008516
Alternative sequence159 – 19537Missing in isoform 3.
VSP_017058

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: CE3942EFD6E55A8D

FASTA33335,463
        10         20         30         40         50         60 
MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT 

        70         80         90        100        110        120 
GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG 

       130        140        150        160        170        180 
SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS 

       190        200        210        220        230        240 
AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR 

       250        260        270        280        290        300 
IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE 

       310        320        330 
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS 

« Hide

Isoform 2 [UniParc].

Checksum: DA197EC01872D3F5
Show »

FASTA15714,932
Isoform 3 [UniParc].

Checksum: 94B885A0007F8A09
Show »

FASTA29631,255
Isoform 4 [UniParc].

Checksum: 1AB6F3351879FA49
Show »

FASTA21024,581

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ007014 mRNA. Translation: CAB45546.1.
AK091430 mRNA. Translation: BAG52359.1.
AJ012221 expand/collapse EMBL AC list , 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.
CCDSCCDS14551.1. [Q9Y4X0-1]
CCDS35368.1. [Q9Y4X0-3]
CCDS55476.1. [Q9Y4X0-4]
RefSeqNP_001020751.1. NM_001025580.1. [Q9Y4X0-3]
NP_001165160.1. NM_001171689.1. [Q9Y4X0-4]
NP_056180.1. NM_015365.2. [Q9Y4X0-1]
UniGeneHs.656243.

3D structure databases

ProteinModelPortalQ9Y4X0.
SMRQ9Y4X0. Positions 161-266.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115274. 2 interactions.
IntActQ9Y4X0. 8 interactions.
MINTMINT-3086664.
STRING9606.ENSP00000262844.

PTM databases

PhosphoSiteQ9Y4X0.

Polymorphism databases

DMDM48475039.

Proteomic databases

MaxQBQ9Y4X0.
PaxDbQ9Y4X0.
PRIDEQ9Y4X0.

Protocols and materials databases

DNASU9949.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262844; ENSP00000262844; ENSG00000101935. [Q9Y4X0-1]
ENST00000372057; ENSP00000361127; ENSG00000101935. [Q9Y4X0-4]
ENST00000372059; ENSP00000361129; ENSG00000101935. [Q9Y4X0-3]
GeneID9949.
KEGGhsa:9949.
UCSCuc004eoo.3. human. [Q9Y4X0-1]
uc004eop.3. human. [Q9Y4X0-3]

Organism-specific databases

CTD9949.
GeneCardsGC0XM109437.
HGNCHGNC:467. AMMECR1.
HPAHPA051762.
MIM300194. phenotype.
300195. gene.
neXtProtNX_Q9Y4X0.
Orphanet86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBPA24772.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2078.
HOGENOMHOG000223418.
HOVERGENHBG056408.
InParanoidQ9Y4X0.
OMAANVSRAN.
OrthoDBEOG7PVWQN.
PhylomeDBQ9Y4X0.
TreeFamTF314680.

Gene expression databases

BgeeQ9Y4X0.
CleanExHS_AMMECR1.
GenevestigatorQ9Y4X0.

Family and domain databases

Gene3D3.30.700.20. 1 hit.
InterProIPR023473. AMMECR1.
IPR002733. AMMECR1_domain.
IPR027485. AMMECR1_N.
[Graphical view]
PANTHERPTHR13016. PTHR13016. 1 hit.
PfamPF01871. AMMECR1. 1 hit.
[Graphical view]
SUPFAMSSF143447. SSF143447. 1 hit.
TIGRFAMsTIGR00296. TIGR00296. 1 hit.
PROSITEPS51112. AMMECR1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi9949.
NextBio37540.
PROQ9Y4X0.
SOURCESearch...

Entry information

Entry nameAMMR1_HUMAN
AccessionPrimary (citable) accession number: Q9Y4X0
Secondary accession number(s): Q5JYV9 expand/collapse secondary AC list , Q6P9D8, Q8WX22, Q9UIQ8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM