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Protein

Absent in melanoma 1 protein

Gene

AIM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Lectin

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112297-MONOMER.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.

Names & Taxonomyi

Protein namesi
Recommended name:
Absent in melanoma 1 protein
Alternative name(s):
Beta/gamma crystallin domain-containing protein 1
Gene namesi
Name:AIM1
Synonyms:CRYBG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:356. AIM1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi202.
MalaCardsiAIM1.
OpenTargetsiENSG00000112297.
PharmGKBiPA24649.

Polymorphism and mutation databases

BioMutaiAIM1.
DMDMi76800646.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000576091 – 1723Absent in melanoma 1 proteinAdd BLAST1723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei75PhosphoserineCombined sources1
Modified residuei81PhosphoserineCombined sources1
Modified residuei329PhosphoserineCombined sources1
Modified residuei348PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei525PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y4K1.
PaxDbiQ9Y4K1.
PeptideAtlasiQ9Y4K1.
PRIDEiQ9Y4K1.

PTM databases

iPTMnetiQ9Y4K1.
PhosphoSitePlusiQ9Y4K1.
SwissPalmiQ9Y4K1.

Expressioni

Gene expression databases

BgeeiENSG00000112297.
CleanExiHS_AIM1.
ExpressionAtlasiQ9Y4K1. baseline and differential.
GenevisibleiQ9Y4K1. HS.

Organism-specific databases

HPAiCAB026378.
HPA030948.
HPA030949.

Interactioni

Protein-protein interaction databases

BioGridi106705. 12 interactors.
IntActiQ9Y4K1. 4 interactors.
STRINGi9606.ENSP00000358062.

Structurei

Secondary structure

11723
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi1023 – 1028Combined sources6
Beta strandi1037 – 1039Combined sources3
Beta strandi1053 – 1069Combined sources17
Turni1070 – 1072Combined sources3
Beta strandi1073 – 1079Combined sources7
Beta strandi1081 – 1088Combined sources8
Helixi1094 – 1096Combined sources3
Beta strandi1098 – 1100Combined sources3
Beta strandi1112 – 1116Combined sources5
Beta strandi1416 – 1422Combined sources7
Turni1423 – 1425Combined sources3
Beta strandi1426 – 1434Combined sources9
Helixi1440 – 1442Combined sources3
Beta strandi1446 – 1460Combined sources15
Beta strandi1472 – 1477Combined sources6
Helixi1478 – 1481Combined sources4
Beta strandi1491 – 1495Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DADNMR-A1416-1495[»]
3CW3X-ray1.88A1022-1117[»]
ProteinModelPortaliQ9Y4K1.
SMRiQ9Y4K1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y4K1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1022 – 1061Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST40
Domaini1062 – 1117Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST56
Domaini1123 – 1163Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST41
Domaini1164 – 1206Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST43
Domaini1218 – 1270Beta/gamma crystallin 'Greek key' 5PROSITE-ProRule annotationAdd BLAST53
Domaini1271 – 1313Beta/gamma crystallin 'Greek key' 6PROSITE-ProRule annotationAdd BLAST43
Domaini1319 – 1361Beta/gamma crystallin 'Greek key' 7PROSITE-ProRule annotationAdd BLAST43
Domaini1362 – 1404Beta/gamma crystallin 'Greek key' 8PROSITE-ProRule annotationAdd BLAST43
Domaini1415 – 1452Beta/gamma crystallin 'Greek key' 9PROSITE-ProRule annotationAdd BLAST38
Domaini1453 – 1496Beta/gamma crystallin 'Greek key' 10PROSITE-ProRule annotationAdd BLAST44
Domaini1502 – 1542Beta/gamma crystallin 'Greek key' 11PROSITE-ProRule annotationAdd BLAST41
Domaini1543 – 1584Beta/gamma crystallin 'Greek key' 12PROSITE-ProRule annotationAdd BLAST42
Domaini1586 – 1719Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST134

Sequence similaritiesi

Belongs to the beta/gamma-crystallin family.Curated
Contains 12 beta/gamma crystallin 'Greek key' domains.PROSITE-ProRule annotation
Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IERF. Eukaryota.
ENOG4110BHM. LUCA.
GeneTreeiENSGT00670000097933.
HOGENOMiHOG000033870.
HOVERGENiHBG080825.
InParanoidiQ9Y4K1.
OMAiRHTDIRG.
OrthoDBiEOG091G007H.
PhylomeDBiQ9Y4K1.
TreeFamiTF331078.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00030. Crystall. 6 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00458. RICIN. 1 hit.
SM00247. XTALbg. 6 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 12 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4K1-1) [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

        10         20         30         40         50
MEKRSSGRRS GRRRGSQKST DSPGADAELP ESAARDDAVF DDEVAPNAAS
60 70 80 90 100
DNASAEKKVK SPRAALDGGV ASAASPESKP SPGTKGQLRG ESDRSKQPPP
110 120 130 140 150
ASSPTKRKGR SRALEAVPAP PASGPRAPAK ESPPKRVPDP SPVTKGTAAE
160 170 180 190 200
SGEEAARAIP RELPVKSSSL LPEIKPEHKR GPLPNHFNGR AEGGRSRELG
210 220 230 240 250
RAAGAPGASD ADGLKPRNHF GVGRSTVTTK VTLPAKPKHV ELNLKTPKNL
260 270 280 290 300
DSLGNEHNPF SQPVHKGNTA TKISLFENKR TNSSPRHTDI RGQRNTPASS
310 320 330 340 350
KTFVGRAKLN LAKKAKEMEQ PEKKVMPNSP QNGVLVKETA IETKVTVSEE
360 370 380 390 400
EILPATRGMN GDSSENQALG PQPNQDDKAD VQTDAGCLSE PVASALIPVK
410 420 430 440 450
DHKLLEKEDS EAADSKSLVL ENVTDTAQDI PTTVDTKDLP PTAMPKPQHT
460 470 480 490 500
FSDSQSPAES SPGPSLSLSA PAPGDVPKDT CVQSPISSFP CTDLKVSENH
510 520 530 540 550
KGCVLPVSRQ NNEKMPLLEL GGETTPPLST ERSPEAVGSE CPSRVLVQVR
560 570 580 590 600
SFVLPVESTQ DVSSQVIPES SEVREVQLPT CHSNEPEVVS VASCAPPQEE
610 620 630 640 650
VLGNEHSHCT AELAAKSGPQ VIPPASEKTL PIQAQSQGSR TPLMAESSPT
660 670 680 690 700
NSPSSGNHLA TPQRPDQTVT NGQDSPASLL NISAGSDDSV FDSSSDMEKF
710 720 730 740 750
TEIIKQMDSA VCMPMKRKKA RMPNSPAPHF AMPPIHEDHL EKVFDPKVFT
760 770 780 790 800
FGLGKKKESQ PEMSPALHLM QNLDTKSKLR PKRASAEQSV LFKSLHTNTN
810 820 830 840 850
GNSEPLVMPE INDKENRDVT NGGIKRSRLE KSALFSSLLS SLPQDKIFSP
860 870 880 890 900
SVTSVNTMTT AFSTSQNGSL SQSSVSQPTT EGAPPCGLNK EQSNLLPDNS
910 920 930 940 950
LKVFNFNSSS TSHSSLKSPS HMEKYPQKEK TKEDLDSRSN LHLPETKFSE
960 970 980 990 1000
LSKLKNDDME KANHIESVIK SNLPNCANSD TDFMGLFKSS RYDPSISFSG
1010 1020 1030 1040 1050
MSLSDTMTLR GSVQNKLNPR PGKVVIYSEP DVSEKCIEVF SDIQDCSSWS
1060 1070 1080 1090 1100
LSPVILIKVV RGCWILYEQP NFEGHSIPLE EGELELSGLW GIEDILERHE
1110 1120 1130 1140 1150
EAESDKPVVI GSIRHVVQDY RVSHIDLFTE PEGLGILSSY FDDTEEMQGF
1160 1170 1180 1190 1200
GVMQKTCSMK VHWGTWLIYE EPGFQGVPFI LEPGEYPDLS FWDTEEAYIG
1210 1220 1230 1240 1250
SMRPLKMGGR KVEFPTDPKV VVYEKPFFEG KCVELETGMC SFVMEGGETE
1260 1270 1280 1290 1300
EATGDDHLPF TSVGSMKVLR GIWVAYEKPG FTGHQYLLEE GEYRDWKAWG
1310 1320 1330 1340 1350
GYNGELQSLR PILGDFSNAH MIMYSEKNFG SKGSSIDVLG IVANLKETGY
1360 1370 1380 1390 1400
GVKTQSINVL SGVWVAYENP DFTGEQYILD KGFYTSFEDW GGKNCKISSV
1410 1420 1430 1440 1450
QPICLDSFTG PRRRNQIHLF SEPQFQGHSQ SFEETTSQID DSFSTKSCRV
1460 1470 1480 1490 1500
SGGSWVVYDG ENFTGNQYVL EEGHYPCLSA MGCPPGATFK SLRFIDVEFS
1510 1520 1530 1540 1550
EPTIILFERE DFKGKKIELN AETVNLRSLG FNTQIRSVQV IGGIWVTYEY
1560 1570 1580 1590 1600
GSYRGRQFLL SPAEVPNWYE FSGCRQIGSL RPFVQKRIYF RLRNKATGLF
1610 1620 1630 1640 1650
MSTNGNLEDL KLLRIQVMED VGADDQIWIY QEGCIKCRIA EDCCLTIVGS
1660 1670 1680 1690 1700
LVTSGSKLGL ALDQNADSQF WSLKSDGRIY SKLKPNLVLD IKGGTQYDQN
1710 1720
HIILNTVSKE KFTQVWEAMV LYT
Length:1,723
Mass (Da):188,676
Last modified:September 27, 2005 - v3
Checksum:iF4137765BCE039D5
GO
Isoform 2 (identifier: Q9Y4K1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MEKRSSGRRSGRRRGSQKSTDSPGAD → MQKPKTVAWENLGPEMSALGTAFSRE
     27-1207: Missing.

Note: No experimental confirmation available.
Show »
Length:542
Mass (Da):61,007
Checksum:i9FA2DAABFE123CCB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055687267G → D.Corresponds to variant rs11968933dbSNPEnsembl.1
Natural variantiVAR_055688293Q → P.1 PublicationCorresponds to variant rs1159148dbSNPEnsembl.1
Natural variantiVAR_055689491C → R.Corresponds to variant rs3747787dbSNPEnsembl.1
Natural variantiVAR_0556901096L → V.Corresponds to variant rs1350902dbSNPEnsembl.1
Natural variantiVAR_0556911196E → A.1 PublicationCorresponds to variant rs783396dbSNPEnsembl.1
Natural variantiVAR_0556921395C → Y.1 PublicationCorresponds to variant rs2297970dbSNPEnsembl.1
Natural variantiVAR_0556931445T → S.Corresponds to variant rs1676015dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0565801 – 26MEKRS…SPGAD → MQKPKTVAWENLGPEMSALG TAFSRE in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_05658127 – 1207Missing in isoform 2. 1 PublicationAdd BLAST1181

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U83116 Genomic DNA. Translation: AAB53792.1.
U83115 mRNA. Translation: AAB53791.1.
AK300443 mRNA. Translation: BAG62166.1.
AL390074, AL359292 Genomic DNA. Translation: CAH72091.1.
AL359292, AL390074 Genomic DNA. Translation: CAI21046.1.
CH471051 Genomic DNA. Translation: EAW48412.1.
CCDSiCCDS34506.1. [Q9Y4K1-1]
RefSeqiNP_001615.2. NM_001624.3. [Q9Y4K1-1]
UniGeneiHs.724262.
Hs.744905.

Genome annotation databases

EnsembliENST00000369066; ENSP00000358062; ENSG00000112297. [Q9Y4K1-1]
GeneIDi202.
KEGGihsa:202.
UCSCiuc003prh.4. human. [Q9Y4K1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U83116 Genomic DNA. Translation: AAB53792.1.
U83115 mRNA. Translation: AAB53791.1.
AK300443 mRNA. Translation: BAG62166.1.
AL390074, AL359292 Genomic DNA. Translation: CAH72091.1.
AL359292, AL390074 Genomic DNA. Translation: CAI21046.1.
CH471051 Genomic DNA. Translation: EAW48412.1.
CCDSiCCDS34506.1. [Q9Y4K1-1]
RefSeqiNP_001615.2. NM_001624.3. [Q9Y4K1-1]
UniGeneiHs.724262.
Hs.744905.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DADNMR-A1416-1495[»]
3CW3X-ray1.88A1022-1117[»]
ProteinModelPortaliQ9Y4K1.
SMRiQ9Y4K1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106705. 12 interactors.
IntActiQ9Y4K1. 4 interactors.
STRINGi9606.ENSP00000358062.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.

PTM databases

iPTMnetiQ9Y4K1.
PhosphoSitePlusiQ9Y4K1.
SwissPalmiQ9Y4K1.

Polymorphism and mutation databases

BioMutaiAIM1.
DMDMi76800646.

Proteomic databases

EPDiQ9Y4K1.
PaxDbiQ9Y4K1.
PeptideAtlasiQ9Y4K1.
PRIDEiQ9Y4K1.

Protocols and materials databases

DNASUi202.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369066; ENSP00000358062; ENSG00000112297. [Q9Y4K1-1]
GeneIDi202.
KEGGihsa:202.
UCSCiuc003prh.4. human. [Q9Y4K1-1]

Organism-specific databases

CTDi202.
DisGeNETi202.
GeneCardsiAIM1.
H-InvDBHIX0006103.
HGNCiHGNC:356. AIM1.
HPAiCAB026378.
HPA030948.
HPA030949.
MalaCardsiAIM1.
MIMi601797. gene.
neXtProtiNX_Q9Y4K1.
OpenTargetsiENSG00000112297.
PharmGKBiPA24649.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IERF. Eukaryota.
ENOG4110BHM. LUCA.
GeneTreeiENSGT00670000097933.
HOGENOMiHOG000033870.
HOVERGENiHBG080825.
InParanoidiQ9Y4K1.
OMAiRHTDIRG.
OrthoDBiEOG091G007H.
PhylomeDBiQ9Y4K1.
TreeFamiTF331078.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112297-MONOMER.

Miscellaneous databases

ChiTaRSiAIM1. human.
EvolutionaryTraceiQ9Y4K1.
GeneWikiiAIM1.
GenomeRNAii202.
PROiQ9Y4K1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112297.
CleanExiHS_AIM1.
ExpressionAtlasiQ9Y4K1. baseline and differential.
GenevisibleiQ9Y4K1. HS.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00030. Crystall. 6 hits.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00458. RICIN. 1 hit.
SM00247. XTALbg. 6 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 3 hits.
SSF50370. SSF50370. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 12 hits.
PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAIM1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4K1
Secondary accession number(s): B4DU04, O00296, Q5VWJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: September 27, 2005
Last modified: November 2, 2016
This is version 146 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.