Q8N1P7 (AIM1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Absent in melanoma 1-like protein

Alternative name(s):
Beta/gamma crystallin domain-containing protein 2

Gene names

Name:	AIM1L
Synonyms:	CRYBG2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	616 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 10 beta/gamma crystallin 'Greek key' domains. Contains 1 ricin B-type lectin domain.
Sequence caution	The sequence CAI15847.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI15850.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Repeat
Ligand	Lectin
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 616	616	Absent in melanoma 1-like protein		PRO_0000285105
Regions
	Domain	28 – 68	41	Beta/gamma crystallin 'Greek key' 1
	Domain	69 – 111	43	Beta/gamma crystallin 'Greek key' 2
	Domain	123 – 168	46	Beta/gamma crystallin 'Greek key' 3
	Domain	169 – 211	43	Beta/gamma crystallin 'Greek key' 4
	Domain	217 – 257	41	Beta/gamma crystallin 'Greek key' 5
	Domain	258 – 300	43	Beta/gamma crystallin 'Greek key' 6
	Domain	311 – 348	38	Beta/gamma crystallin 'Greek key' 7
	Domain	349 – 392	44	Beta/gamma crystallin 'Greek key' 8
	Domain	398 – 438	41	Beta/gamma crystallin 'Greek key' 9
	Domain	439 – 480	42	Beta/gamma crystallin 'Greek key' 10
	Domain	485 – 614	130	Ricin B-type lectin
Natural variations
	Natural variant	249	1	S → N. Corresponds to variant rs10751735 [ dbSNP | Ensembl ].		VAR_048835

Sequences

	Sequence		Length	Mass (Da)
	Q8N1P7 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: F82253C6D5EC17B8	FASTA	616	68,646
	10 20 30 40 50 60 MELRTPGTKW SPQGIGSLRR VVWDYSTPEI SLFSEEGLKG EQVKLTEALK NSQGLEKPLQ 70 80 90 100 110 120 VASATVSAGL WLLYPKPLFE DTPYILEPGE YPTSEAWGTS DPSVGSLKPM RLGCPSVEKP 130 140 150 160 170 180 GEPRAVVYEA PGFQGRSWEV SRDIYNLQQP EDSQSPHLAS VGSLRVLGGC WVGYEKEGFR 190 200 210 220 230 240 GHQYLLEEGE YPDWSHWGGY DELLTSLRVI RTDFGDPAVV LFEAMDFEGH GVEVSKALPD 250 260 270 280 290 300 VELVQHGPST QAIHVLSGVW VAYQEVGFSG EQYVLEKGVY RNCEDWGAGN STLASLQPVL 310 320 330 340 350 360 QVGEHDLHFV SKIQLFSRPD FLGDHFSFED DQAALPASFR PQSCRVHGGS WILFDETNFE 370 380 390 400 410 420 GDQHILSEGE FPTLTAMGCL ASTVLGSLQK VSLHFSEPSI FLYGLECFEG KEIELSREVR 430 440 450 460 470 480 SLQAEGFNNH VLSVRIKGGI WVLCEHSDFR GRQWLVGSCE ITNWLTYSGT QRVGSLYPIK 490 500 510 520 530 540 QRRVYFRLWN AALGGFLAVP DHVEDMKAGR VVVADPQAGG SCIWYYEDGL LKNQMAPTMS 550 560 570 580 590 600 LQVIGPPSPG SKVVLWAESR LPRQTWSISE SGHICSQMFE GQILDVKGGR GYDRDHVVLW 610 EPDEDRASQI WTIHVL

References

[1]	"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]. Tissue: Tongue.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK095339 mRNA. Translation: BAC04533.1. AL451139 Genomic DNA. Translation: CAI15847.1. Sequence problems. AL451139 Genomic DNA. Translation: CAI15850.2. Sequence problems. BC136870 mRNA. Translation: AAI36871.1.
IPI	IPI00166211.
RefSeq	NP_001034864.2. NM_001039775.3.
UniGene	Hs.128738.
3D structure databases
ProteinModelPortal	Q8N1P7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000409834.
Protein family/group databases
CAZy	CBM13. Carbohydrate-Binding Module Family 13.
PTM databases
PhosphoSite	Q8N1P7.
Polymorphism databases
DMDM	74750904.
Proteomic databases
PaxDb	Q8N1P7.
PRIDE	Q8N1P7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308182; ENSP00000310435; ENSG00000176092.
GeneID	55057.
KEGG	hsa:55057.
Organism-specific databases
CTD	55057.
GeneCards	GC01M026648.
HGNC	HGNC:17295. AIM1L.
HPA	HPA029629. HPA029631.
neXtProt	NX_Q8N1P7.
PharmGKB	PA24650.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG43859.
HOGENOM	HOG000033869.
HOVERGEN	HBG106499.
InParanoid	Q8N1P7.
OrthoDB	EOG428215.
PhylomeDB	Q8N1P7.
Gene expression databases
ArrayExpress	Q8N1P7.
Bgee	Q8N1P7.
CleanEx	HS_AIM1L.
Genevestigator	Q8N1P7.
Family and domain databases
InterPro	IPR001064. Beta/gamma_crystallin. IPR011024. G_crystallin-rel. IPR000772. Ricin_B_lectin. [Graphical view]
Pfam	PF00030. Crystall. 5 hits. PF00652. Ricin_B_lectin. 1 hit. [Graphical view]
PRINTS	PR01367. BGCRYSTALLIN.
SMART	SM00458. RICIN. 1 hit. SM00247. XTALbg. 5 hits. [Graphical view]
SUPFAM	SSF49695. G_crystallin_SF. 3 hits. SSF50370. RicinB_like. 1 hit.
PROSITE	PS50915. CRYSTALLIN_BETA_GAMMA. 10 hits. PS50231. RICIN_B_LECTIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55057.
NextBio	58545.

Entry information

Entry name

AIM1L_HUMAN

Accession

Primary (citable) accession number: Q8N1P7
Secondary accession number(s): B2RNG3, Q5T137, Q5T150

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	October 1, 2002
Last modified:	May 29, 2013
This is version 87 of the entry and version 1 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.