Q9Y4K1 (AIM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Absent in melanoma 1 protein

Alternative name(s):
Beta/gamma crystallin domain-containing protein 1

Gene names

Name:	AIM1
Synonyms:	CRYBG1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1723 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Domain	Repeat
Ligand	Lectin
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	sugar binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1723

1723

Absent in melanoma 1 protein

PRO_0000057609

Regions

Domain

1022 – 1061

40

Beta/gamma crystallin 'Greek key' 1

Domain

1062 – 1117

56

Beta/gamma crystallin 'Greek key' 2

Domain

1123 – 1163

41

Beta/gamma crystallin 'Greek key' 3

Domain

1164 – 1206

43

Beta/gamma crystallin 'Greek key' 4

Domain

1218 – 1270

53

Beta/gamma crystallin 'Greek key' 5

Domain

1271 – 1313

43

Beta/gamma crystallin 'Greek key' 6

Domain

1319 – 1361

43

Beta/gamma crystallin 'Greek key' 7

Domain

1362 – 1404

43

Beta/gamma crystallin 'Greek key' 8

Domain

1415 – 1452

38

Beta/gamma crystallin 'Greek key' 9

Domain

1453 – 1496

44

Beta/gamma crystallin 'Greek key' 10

Domain

1502 – 1542

41

Beta/gamma crystallin 'Greek key' 11

Domain

1543 – 1584

42

Beta/gamma crystallin 'Greek key' 12

Domain

1586 – 1719

134

Ricin B-type lectin

Amino acid modifications

Modified residue

75

1

Phosphoserine Ref.4

Modified residue

525

1

Phosphothreonine Ref.4

Modified residue

827

1

Phosphoserine Ref.3

Modified residue

832

1

Phosphoserine Ref.3

Modified residue

836

1

Phosphoserine Ref.3

Modified residue

837

1

Phosphoserine Ref.3

Modified residue

840

1

Phosphoserine Ref.3

Modified residue

841

1

Phosphoserine Ref.3

Natural variations

Natural variant

267

1

G → D.
Corresponds to variant rs11968933 [ dbSNP | Ensembl ].

VAR_055687

Natural variant

293

1

Q → P. Ref.1
Corresponds to variant rs1159148 [ dbSNP | Ensembl ].

VAR_055688

Natural variant

491

1

C → R.
Corresponds to variant rs3747787 [ dbSNP | Ensembl ].

VAR_055689

Natural variant

1096

1

L → V.
Corresponds to variant rs1350902 [ dbSNP | Ensembl ].

VAR_055690

Natural variant

1196

1

E → A. Ref.1
Corresponds to variant rs783396 [ dbSNP | Ensembl ].

VAR_055691

Natural variant

1395

1

C → Y. Ref.1
Corresponds to variant rs2297970 [ dbSNP | Ensembl ].

VAR_055692

Natural variant

1445

1

T → S.
Corresponds to variant rs1676015 [ dbSNP | Ensembl ].

VAR_055693

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1723

Helix Strand Turn

Details...

Beta strand

1023 – 1028

6

Beta strand

1037 – 1039

3

Beta strand

1053 – 1069

17

Turn

1070 – 1072

3

Beta strand

1073 – 1079

7

Beta strand

1081 – 1088

8

Helix

1094 – 1096

3

Beta strand

1098 – 1100

3

Beta strand

1112 – 1116

5

Sequences

	Sequence		Length	Mass (Da)
	Q9Y4K1 [UniParc]. Last modified September 27, 2005. Version 3. Checksum: F4137765BCE039D5	FASTA	1,723	188,676
	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

References

	« Hide 'large scale' referencesShow '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: 9096375] [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. , 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: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-827; SER-832; SER-836; SER-837; SER-840 AND SER-841, MASS SPECTROMETRY.
[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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75 AND THR-525, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[5]	"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.
[6]	"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: 18582473] [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.

IPI

IPI00294840.

RefSeq

NP_001615.1. NM_001624.2.

UniGene

Hs.724262.
Hs.728842.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DAD	NMR	-	A	1416-1495	[»]
3CW3	X-ray	1.88	A	1022-1117	[»]

ProteinModelPortal

Q9Y4K1.

SMR

Q9Y4K1. Positions 980-1720.

ModBase

Search...

Protein-protein interaction databases

STRING

Q9Y4K1.

Protein family/group databases

CAZy

CBM13. Carbohydrate-Binding Module Family 13.

PTM databases

PhosphoSite

Q9Y4K1.

Polymorphism databases

DMDM

76800646.

Proteomic databases

PeptideAtlas

Q9Y4K1.

PRIDE

Q9Y4K1.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000369066; ENSP00000358062; ENSG00000112297.

GeneID

202.

KEGG

hsa:202.

UCSC

uc003prh.1. human.

Organism-specific databases

CTD

202.

GeneCards

GC06P106854.

HGNC

HGNC:356. AIM1.

HPA

CAB026378.

MIM

601797. gene.

neXtProt

NX_Q9Y4K1.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG16419.

GeneTree

ENSGT00560000077094.

HOVERGEN

HBG080825.

InParanoid

Q9Y4K1.

OMA

VQKRIYF.

OrthoDB

EOG457565.

PhylomeDB

Q9Y4K1.

Gene expression databases

ArrayExpress

Q9Y4K1.

Bgee

Q9Y4K1.

CleanEx

HS_AIM1.

Genevestigator

Q9Y4K1.

GermOnline

ENSG00000112297. Homo sapiens.

Family and domain databases

InterPro

IPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR008997. Ricin_B-rel_lectin.
IPR000772. Ricin_B_lectin.
[Graphical view]

Gene3D

G3DSA:2.60.20.10. Crystallin. 6 hits.

Pfam

PF00030. Crystall. 6 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]

PRINTS

PR01367. BGCRYSTALLIN.

SMART

SM00458. RICIN. 1 hit.
SM00247. XTALbg. 6 hits.
[Graphical view]

SUPFAM

SSF49695. G_crystallin_SF. 3 hits.
SSF50370. RicinB_like. 1 hit.

PROSITE

PS50915. CRYSTALLIN_BETA_GAMMA. 12 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

804.

SOURCE

Search...

Entry information

Entry name

AIM1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 98 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.