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Q9Y4K1 (AIM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Absent in melanoma 1 protein
Alternative name(s):
Beta/gamma crystallin domain-containing protein 1
Gene names
Name:AIM1
Synonyms:CRYBG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1723 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.

Sequence similarities

Belongs to the beta/gamma-crystallin family.

Contains 12 beta/gamma crystallin 'Greek key' domains.

Contains 1 ricin B-type lectin domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainRepeat
   LigandLectin
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17231723Absent in melanoma 1 protein
PRO_0000057609

Regions

Domain1022 – 106140Beta/gamma crystallin 'Greek key' 1
Domain1062 – 111756Beta/gamma crystallin 'Greek key' 2
Domain1123 – 116341Beta/gamma crystallin 'Greek key' 3
Domain1164 – 120643Beta/gamma crystallin 'Greek key' 4
Domain1218 – 127053Beta/gamma crystallin 'Greek key' 5
Domain1271 – 131343Beta/gamma crystallin 'Greek key' 6
Domain1319 – 136143Beta/gamma crystallin 'Greek key' 7
Domain1362 – 140443Beta/gamma crystallin 'Greek key' 8
Domain1415 – 145238Beta/gamma crystallin 'Greek key' 9
Domain1453 – 149644Beta/gamma crystallin 'Greek key' 10
Domain1502 – 154241Beta/gamma crystallin 'Greek key' 11
Domain1543 – 158442Beta/gamma crystallin 'Greek key' 12
Domain1586 – 1719134Ricin B-type lectin

Amino acid modifications

Modified residue751Phosphoserine Ref.4
Modified residue3291Phosphoserine Ref.4
Modified residue5251Phosphothreonine Ref.4

Natural variations

Natural variant2671G → D.
Corresponds to variant rs11968933 [ dbSNP | Ensembl ].
VAR_055687
Natural variant2931Q → P. Ref.1
Corresponds to variant rs1159148 [ dbSNP | Ensembl ].
VAR_055688
Natural variant4911C → R.
Corresponds to variant rs3747787 [ dbSNP | Ensembl ].
VAR_055689
Natural variant10961L → V.
Corresponds to variant rs1350902 [ dbSNP | Ensembl ].
VAR_055690
Natural variant11961E → A. Ref.1
Corresponds to variant rs783396 [ dbSNP | Ensembl ].
VAR_055691
Natural variant13951C → Y. Ref.1
Corresponds to variant rs2297970 [ dbSNP | Ensembl ].
VAR_055692
Natural variant14451T → S.
Corresponds to variant rs1676015 [ dbSNP | Ensembl ].
VAR_055693

Secondary structure

................. 1723
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y4K1 [UniParc].

Last modified September 27, 2005. Version 3.
Checksum: F4137765BCE039D5

FASTA1,723188,676
        10         20         30         40         50         60 
MEKRSSGRRS GRRRGSQKST DSPGADAELP ESAARDDAVF DDEVAPNAAS DNASAEKKVK 

        70         80         90        100        110        120 
SPRAALDGGV ASAASPESKP SPGTKGQLRG ESDRSKQPPP ASSPTKRKGR SRALEAVPAP 

       130        140        150        160        170        180 
PASGPRAPAK ESPPKRVPDP SPVTKGTAAE SGEEAARAIP RELPVKSSSL LPEIKPEHKR 

       190        200        210        220        230        240 
GPLPNHFNGR AEGGRSRELG RAAGAPGASD ADGLKPRNHF GVGRSTVTTK VTLPAKPKHV 

       250        260        270        280        290        300 
ELNLKTPKNL DSLGNEHNPF SQPVHKGNTA TKISLFENKR TNSSPRHTDI RGQRNTPASS 

       310        320        330        340        350        360 
KTFVGRAKLN LAKKAKEMEQ PEKKVMPNSP QNGVLVKETA IETKVTVSEE EILPATRGMN 

       370        380        390        400        410        420 
GDSSENQALG PQPNQDDKAD VQTDAGCLSE PVASALIPVK DHKLLEKEDS EAADSKSLVL 

       430        440        450        460        470        480 
ENVTDTAQDI PTTVDTKDLP PTAMPKPQHT FSDSQSPAES SPGPSLSLSA PAPGDVPKDT 

       490        500        510        520        530        540 
CVQSPISSFP CTDLKVSENH KGCVLPVSRQ NNEKMPLLEL GGETTPPLST ERSPEAVGSE 

       550        560        570        580        590        600 
CPSRVLVQVR SFVLPVESTQ DVSSQVIPES SEVREVQLPT CHSNEPEVVS VASCAPPQEE 

       610        620        630        640        650        660 
VLGNEHSHCT AELAAKSGPQ VIPPASEKTL PIQAQSQGSR TPLMAESSPT NSPSSGNHLA 

       670        680        690        700        710        720 
TPQRPDQTVT NGQDSPASLL NISAGSDDSV FDSSSDMEKF TEIIKQMDSA VCMPMKRKKA 

       730        740        750        760        770        780 
RMPNSPAPHF AMPPIHEDHL EKVFDPKVFT FGLGKKKESQ PEMSPALHLM QNLDTKSKLR 

       790        800        810        820        830        840 
PKRASAEQSV LFKSLHTNTN GNSEPLVMPE INDKENRDVT NGGIKRSRLE KSALFSSLLS 

       850        860        870        880        890        900 
SLPQDKIFSP SVTSVNTMTT AFSTSQNGSL SQSSVSQPTT EGAPPCGLNK EQSNLLPDNS 

       910        920        930        940        950        960 
LKVFNFNSSS TSHSSLKSPS HMEKYPQKEK TKEDLDSRSN LHLPETKFSE LSKLKNDDME 

       970        980        990       1000       1010       1020 
KANHIESVIK SNLPNCANSD TDFMGLFKSS RYDPSISFSG MSLSDTMTLR GSVQNKLNPR 

      1030       1040       1050       1060       1070       1080 
PGKVVIYSEP DVSEKCIEVF SDIQDCSSWS LSPVILIKVV RGCWILYEQP NFEGHSIPLE 

      1090       1100       1110       1120       1130       1140 
EGELELSGLW GIEDILERHE EAESDKPVVI GSIRHVVQDY RVSHIDLFTE PEGLGILSSY 

      1150       1160       1170       1180       1190       1200 
FDDTEEMQGF GVMQKTCSMK VHWGTWLIYE EPGFQGVPFI LEPGEYPDLS FWDTEEAYIG 

      1210       1220       1230       1240       1250       1260 
SMRPLKMGGR KVEFPTDPKV VVYEKPFFEG KCVELETGMC SFVMEGGETE EATGDDHLPF 

      1270       1280       1290       1300       1310       1320 
TSVGSMKVLR GIWVAYEKPG FTGHQYLLEE GEYRDWKAWG GYNGELQSLR PILGDFSNAH 

      1330       1340       1350       1360       1370       1380 
MIMYSEKNFG SKGSSIDVLG IVANLKETGY GVKTQSINVL SGVWVAYENP DFTGEQYILD 

      1390       1400       1410       1420       1430       1440 
KGFYTSFEDW GGKNCKISSV QPICLDSFTG PRRRNQIHLF SEPQFQGHSQ SFEETTSQID 

      1450       1460       1470       1480       1490       1500 
DSFSTKSCRV SGGSWVVYDG ENFTGNQYVL EEGHYPCLSA MGCPPGATFK SLRFIDVEFS 

      1510       1520       1530       1540       1550       1560 
EPTIILFERE DFKGKKIELN AETVNLRSLG FNTQIRSVQV IGGIWVTYEY GSYRGRQFLL 

      1570       1580       1590       1600       1610       1620 
SPAEVPNWYE FSGCRQIGSL RPFVQKRIYF RLRNKATGLF MSTNGNLEDL KLLRIQVMED 

      1630       1640       1650       1660       1670       1680 
VGADDQIWIY QEGCIKCRIA EDCCLTIVGS LVTSGSKLGL ALDQNADSQF WSLKSDGRIY 

      1690       1700       1710       1720 
SKLKPNLVLD IKGGTQYDQN HIILNTVSKE KFTQVWEAMV LYT 

« Hide

References

« Hide 'large scale' references
[1]"AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma."
Ray M.E., Wistow G., Su Y.A., Meltzer P.S., Trent J.M.
Proc. Natl. Acad. Sci. U.S.A. 94:3229-3234(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-86, NUCLEOTIDE SEQUENCE [MRNA] OF 87-1723, VARIANTS PRO-293; ALA-1196 AND TYR-1395.
Tissue: Liver.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[4]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75; SER-329 AND THR-525, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Solution structure of the fifth crystallin domain of the non-lens protein, absent in melanoma 1."
RIKEN structural genomics initiative (RSGI)
Submitted (JUN-2006) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 1416-1495.
[8]"Exploring the limits of sequence and structure in a variant betagamma-crystallin domain of the protein absent in melanoma-1 (AIM1)."
Aravind P., Wistow G., Sharma Y., Sankaranarayanan R.
J. Mol. Biol. 381:509-518(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.88 ANGSTROMS) OF 1022-1117.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U83116 Genomic DNA. Translation: AAB53792.1.
U83115 mRNA. Translation: AAB53791.1.
AL390074, AL359292 Genomic DNA. Translation: CAH72091.1.
AL359292, AL390074 Genomic DNA. Translation: CAI21046.1.
CCDSCCDS34506.1.
RefSeqNP_001615.1. NM_001624.2.
UniGeneHs.724262.
Hs.744905.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DADNMR-A1416-1495[»]
3CW3X-ray1.88A1022-1117[»]
ProteinModelPortalQ9Y4K1.
SMRQ9Y4K1. Positions 1022-1595.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106705. 2 interactions.
STRING9606.ENSP00000358062.

Protein family/group databases

CAZyCBM13. Carbohydrate-Binding Module Family 13.

PTM databases

PhosphoSiteQ9Y4K1.

Polymorphism databases

DMDM76800646.

Proteomic databases

MaxQBQ9Y4K1.
PaxDbQ9Y4K1.
PeptideAtlasQ9Y4K1.
PRIDEQ9Y4K1.

Protocols and materials databases

DNASU202.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369066; ENSP00000358062; ENSG00000112297.
GeneID202.
KEGGhsa:202.
UCSCuc003prh.3. human.

Organism-specific databases

CTD202.
GeneCardsGC06P106915.
H-InvDBHIX0006103.
HGNCHGNC:356. AIM1.
HPACAB026378.
HPA030948.
MIM601797. gene.
neXtProtNX_Q9Y4K1.
PharmGKBPA24649.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44674.
HOGENOMHOG000033870.
HOVERGENHBG080825.
InParanoidQ9Y4K1.
OMAKARMPNS.
OrthoDBEOG754HNK.
PhylomeDBQ9Y4K1.
TreeFamTF331078.

Gene expression databases

ArrayExpressQ9Y4K1.
BgeeQ9Y4K1.
CleanExHS_AIM1.
GenevestigatorQ9Y4K1.

Family and domain databases

InterProIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamPF00030. Crystall. 6 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
PRINTSPR01367. BGCRYSTALLIN.
SMARTSM00458. RICIN. 1 hit.
SM00247. XTALbg. 6 hits.
[Graphical view]
SUPFAMSSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEPS50915. CRYSTALLIN_BETA_GAMMA. 12 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAIM1. human.
EvolutionaryTraceQ9Y4K1.
GeneWikiAIM1.
GenomeRNAi202.
NextBio804.
PROQ9Y4K1.
SOURCESearch...

Entry information

Entry nameAIM1_HUMAN
AccessionPrimary (citable) accession number: Q9Y4K1
Secondary accession number(s): O00296, Q5VWJ2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: September 27, 2005
Last modified: July 9, 2014
This is version 122 of the entry and version 3 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM