Mu-crystallin homolog - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q14894 (CRYM_HUMAN)

Last modified January 19, 2010. Version 88. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Mu-crystallin homolog
Alternative name(s):
NADP-regulated thyroid-hormone-binding protein

Gene names

Name:	CRYM
Synonyms:	THBP

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	314 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Binds thyroid hormone. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.
Subunit structure	Homodimer. Ref.8
Subcellular location	Cytoplasm.
Tissue specificity	Expressed in neural tissue, muscle and kidney.
Sequence similarities	Belongs to the ornithine cyclodeaminase family.

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Ontologies

Keywords
Cellular component	Cytoplasm
Ligand	NADP
Technical term	3D-structure Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	negative regulation of transcription from RNA polymerase II promoter Inferred from mutant phenotype. Source: UniProtKB sensory perception of sound Inferred from mutant phenotype. Source: UniProtKB thyroid hormone transport Inferred from mutant phenotype. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB
Molecular function	NADP or NADPH binding Ref.8 Inferred from direct assay. Source: UniProtKB catalytic activity Inferred from electronic annotation. Source: InterPro protein homodimerization activity Inferred from direct assay. Source: UniProtKB thyroid hormone binding Ref.2 Inferred from direct assay. Source: UniProtKB transcription corepressor activity Inferred from mutant phenotype. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 314

314

Mu-crystallin homolog

PRO_0000200678

Regions

Nucleotide binding

143 – 148

NADP

Sites

Binding site

168

NADP

Binding site

169

NADP

Secondary structure

314

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

Q14894-1 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: A49D316B41CE6648
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FASTA

314

33,776

        10         20         30         40         50         60 
MSRVPAFLSA AEVEEHLRSS SLLIPPLETA LANFSSGPEG GVMQPVRTVV PVTKHRGYLG 

        70         80         90        100        110        120 
VMPAYSAAED ALTTKLVTFY EDRGITSVVP SHQATVLLFE PSNGTLLAVM DGNVITAKRT 

       130        140        150        160        170        180 
AAVSAIATKF LKPPSSEVLC ILGAGVQAYS HYEIFTEQFS FKEVRIWNRT KENAEKFADT 

       190        200        210        220        230        240 
VQGEVRVCSS VQEAVAGADV IITVTLATEP ILFGEWVKPG AHINAVGASR PDWRELDDEL 

       250        260        270        280        290        300 
MKEAVLYVDS QEAALKESGD VLLSGAEIFA ELGEVIKGVK PAHCEKTTVF KSLGMAVEDT 

       310 
VAAKLIYDSW SSGK

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas." Segovia L., Horwitz J., Gasser R., Wistow G. Mol. Vis. 3:9-9(1997) [PubMed: 9285773] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[2]	"Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein." Vie M.-P., Evrard C., Osty J., Breton-Gilet A., Blanchet P., Pomerance M., Rouget P., Francon J., Blondeau J.-P. Mol. Endocrinol. 11:1728-1736(1997) [PubMed: 9328354] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[3]	"Human and mouse Mu-crystallin." Sperbeck S.J., Segovia L., Wistow G.J. Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed: 10493829] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 4-18; 57-83; 177-186; 243-277 AND 292-314, MASS SPECTROMETRY. Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
[7]	"Mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina." Kim R.Y., Gasser R., Wistow G.J. Proc. Natl. Acad. Sci. U.S.A. 89:9292-9296(1992) [PubMed: 1384048] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 37-314. Tissue: Retina.
[8]	"Crystal structure of human micro-crystallin complexed with NADPH." Cheng Z., Sun L., He J., Gong W. Protein Sci. 16:329-335(2007) [PubMed: 17242435] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 2-313 IN COMPLEX WITH NADPH, SUBUNIT, NADP-BINDING SITES.
+	Additional computationally mapped references.

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ

L02950 mRNA. Translation: AAC16914.1.
U85772 mRNA. Translation: AAB81564.1.
AF039397

AF039396 Genomic DNA. Translation: AAB94938.1.
BC018061 mRNA. Translation: AAH18061.1.
AF001550 Genomic DNA. Translation: AAB67600.1.

IPI

IPI00000949.

PIR

B46290.

RefSeq

NP_001014444.1.
NP_001879.1.

UniGene

Hs.924

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2I99	X-ray	2.60	A/B	2-313	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

Q14894.

Proteomic databases

PRIDE

Q14894.

Genome annotation databases

Ensembl

ENST00000219599; ENSP00000219599; ENSG00000103316; Homo sapiens. [Genome view]
ENST00000396023; ENSP00000379341; ENSG00000103316; Homo sapiens. [Genome view]

GeneID

1428.

KEGG

hsa:1428.

UCSC

uc002dik.1. human.

Organism-specific databases

CTD

1428.

GeneCards

GC16M021177.

H-InvDB

HIX0012871.

HGNC

HGNC:2418. CRYM.

HPA

HPA019086.

MIM

123740. gene.

Orphanet

90635. Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA.
87884. Nonsyndromic genetic deafness.

PharmGKB

PA26924.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG18602.

HOGENOM

HBG300196.

HOVERGEN

Q14894.

InParanoid

Q14894.

OMA

ILYNRTE.

OrthoDB

EOG9QRKPT.

PhylomeDB

Q14894.

Gene expression databases

ArrayExpress

Q14894.

Bgee

Q14894.

CleanEx

HS_CRYM.

Genevestigator

Q14894.

GermOnline

ENSG00000103316. Homo sapiens.

Family and domain databases

InterPro

IPR016040. NAD(P)-bd_dom.
IPR003462. ODC_Mu_crystall.
[Graphical view]

Gene3D

G3DSA:3.40.50.720. NAD(P)-bd. 1 hit.

PANTHER

PTHR13812. ODC_Mu_crystall. 1 hit.

Pfam

PF02423. OCD_Mu_crystall. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

DrugBank

DB00451. Levothyroxine.

NextBio

5823.

SOURCE

Search...

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Entry information

Entry name

CRYM_HUMAN

Accession

Primary (citable) accession number: Q14894

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
Last modified:	January 19, 2010
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

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Relevant documents

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families