Q86X76 (NIT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nitrilase homolog 1
EC=3.5.-.-

Gene names

Name:

NIT1

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	327 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in cell growth and apoptosis: loss of expression promotes cell growth and resistance to DNA damage stress. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells. Has apparently no omega-amidase activity such as NIT2 By similarity.
Subcellular location	Cytoplasm. Mitochondrion By similarity.
Tissue specificity	Detected in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. Ref.1
Miscellaneous	According to Rosetta Stone theory, the existence of a fusion protein in one genome predicts that the separate polypeptides expressed in other organisms function in the same cellular or biochemical pathway. In Drosophila melanogaster and Caenorhabditis elegans, NitFhit is a fusion protein composed of a C-terminal Fhit domain and a domain related to plant and bacterial nitrilase.
Sequence similarities	Belongs to the UPF0012 family. Contains 1 CN hydrolase domain.
Sequence caution	The sequence AAH46149.1 differs from that shown. Reason: Chimeric cDNA. Its C-terminal exon is derived from the last exon of the DEDD gene.

Ontologies

Keywords
Cellular component	Cytoplasm Mitochondrion
Coding sequence diversity	Alternative splicing
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nitrogen compound metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	nitrilase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2 (identifier: Q86X76-1)

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.

Note: Major isoform.

Isoform 1 (identifier: Q86X76-2)

Also known as: 3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.

Isoform 4 (identifier: Q86X76-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQ → MVLAISSCWA...PGRTYSLSRR
     327-327: S → SDLTSVSLDLPLPPPPCHYELVLM

Isoform 5 (identifier: Q86X76-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPR → MTFGLRKRLSEERGFSLM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 327	327	Nitrilase homolog 1		PRO_0000213251
Regions
	Domain	47 – 320	274	CN hydrolase
Sites
	Active site	86	1	Proton acceptor Potential
	Active site	161	1	By similarity
	Active site	203	1	Nucleophile By similarity
Natural variations
	Alternative sequence	1 – 36	36	Missing in isoform 1.		VSP_011546
	Alternative sequence	1 – 33	33	MLGFI…CAQPR → MTFGLRKRLSEERGFSLM in isoform 5.		VSP_011545
	Alternative sequence	1 – 31	31	MLGFI…VLCAQ → MVLAISSCWASSPGLLTDSC PFCVLDSGYLNSQYFVLSPG RTYSLSRR in isoform 4.		VSP_011544
	Alternative sequence	327	1	S → SDLTSVSLDLPLPPPPCHYE LVLM in isoform 4.		VSP_011547

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified August 31, 2004. Version 2. Checksum: 90F7FB9D4BA627B1	FASTA	327	35,896
	10 20 30 40 50 60 MLGFITRPPH RFLSLLCPGL RIPQLSVLCA QPRPRAMAIS SSSCELPLVA VCQVTSTPDK 70 80 90 100 110 120 QQNFKTCAEL VREAARLGAC LAFLPEAFDF IARDPAETLH LSEPLGGKLL EEYTQLAREC 130 140 150 160 170 180 GLWLSLGGFH ERGQDWEQTQ KIYNCHVLLN SKGAVVATYR KTHLCDVEIP GQGPMCESNS 190 200 210 220 230 240 TMPGPSLESP VSTPAGKIGL AVCYDMRFPE LSLALAQAGA EILTYPSAFG SITGPAHWEV 250 260 270 280 290 300 LLRARAIETQ CYVVAAAQCG RHHEKRASYG HSMVVDPWGT VVARCSEGPG LCLARIDLNY 310 320 LRQLRRHLPV FQHRRPDLYG NLGHPLS
	Isoform 1 (3) [UniParc]. Checksum: 314677E205F7ADDE	FASTA	291	31,859
	10 20 30 40 50 60 MAISSSSCEL PLVAVCQVTS TPDKQQNFKT CAELVREAAR LGACLAFLPE AFDFIARDPA 70 80 90 100 110 120 ETLHLSEPLG GKLLEEYTQL ARECGLWLSL GGFHERGQDW EQTQKIYNCH VLLNSKGAVV 130 140 150 160 170 180 ATYRKTHLCD VEIPGQGPMC ESNSTMPGPS LESPVSTPAG KIGLAVCYDM RFPELSLALA 190 200 210 220 230 240 QAGAEILTYP SAFGSITGPA HWEVLLRARA IETQCYVVAA AQCGRHHEKR ASYGHSMVVD 250 260 270 280 290 PWGTVVARCS EGPGLCLARI DLNYLRQLRR HLPVFQHRRP DLYGNLGHPL S
	Isoform 4 [UniParc]. Checksum: 178F0C4BBFE65D25	FASTA	367	40,200
	10 20 30 40 50 60 MVLAISSCWA SSPGLLTDSC PFCVLDSGYL NSQYFVLSPG RTYSLSRRPR PRAMAISSSS 70 80 90 100 110 120 CELPLVAVCQ VTSTPDKQQN FKTCAELVRE AARLGACLAF LPEAFDFIAR DPAETLHLSE 130 140 150 160 170 180 PLGGKLLEEY TQLARECGLW LSLGGFHERG QDWEQTQKIY NCHVLLNSKG AVVATYRKTH 190 200 210 220 230 240 LCDVEIPGQG PMCESNSTMP GPSLESPVST PAGKIGLAVC YDMRFPELSL ALAQAGAEIL 250 260 270 280 290 300 TYPSAFGSIT GPAHWEVLLR ARAIETQCYV VAAAQCGRHH EKRASYGHSM VVDPWGTVVA 310 320 330 340 350 360 RCSEGPGLCL ARIDLNYLRQ LRRHLPVFQH RRPDLYGNLG HPLSDLTSVS LDLPLPPPPC HYELVLM
	Isoform 5 [UniParc]. Checksum: A0BFFE4B76D24EE0	FASTA	312	34,323
	10 20 30 40 50 60 MTFGLRKRLS EERGFSLMPR AMAISSSSCE LPLVAVCQVT STPDKQQNFK TCAELVREAA 70 80 90 100 110 120 RLGACLAFLP EAFDFIARDP AETLHLSEPL GGKLLEEYTQ LARECGLWLS LGGFHERGQD 130 140 150 160 170 180 WEQTQKIYNC HVLLNSKGAV VATYRKTHLC DVEIPGQGPM CESNSTMPGP SLESPVSTPA 190 200 210 220 230 240 GKIGLAVCYD MRFPELSLAL AQAGAEILTY PSAFGSITGP AHWEVLLRAR AIETQCYVVA 250 260 270 280 290 300 AAQCGRHHEK RASYGHSMVV DPWGTVVARC SEGPGLCLAR IDLNYLRQLR RHLPVFQHRR 310 PDLYGNLGHP LS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Nitrilase and Fhit homologs are encoded as fusion proteins in Drosophila melanogaster and Caenorhabditis elegans." Pekarsky Y., Campiglio M., Siprashvili Z., Druck T., Sedkov Y., Tillib S., Draganescu A., Wermuth P., Rothman J.H., Huebner K., Buchberg A.M., Mazo A., Brenner C., Croce C.M. Proc. Natl. Acad. Sci. U.S.A. 95:8744-8749(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 4 AND 5), TISSUE SPECIFICITY.
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"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].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-239 (ISOFORM 2). Tissue: Brain.
[6]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF069984 Genomic DNA. Translation: AAC39901.1. AF069987 mRNA. Translation: AAC39907.1. CR541814 mRNA. Translation: CAG46613.1. CR541846 mRNA. Translation: CAG46644.1. AL591806 Genomic DNA. Translation: CAI15379.1. CH471121 Genomic DNA. Translation: EAW52656.1. CH471121 Genomic DNA. Translation: EAW52654.1. CH471121 Genomic DNA. Translation: EAW52657.1. BC046149 mRNA. Translation: AAH46149.1. Sequence problems.
IPI	IPI00023779. IPI00456663. IPI00456664. IPI00456665.
RefSeq	NP_001172021.1. NM_001185092.1. NP_001172022.1. NM_001185093.1. NP_001172023.1. NM_001185094.1. NP_005591.1. NM_005600.2.
UniGene	Hs.741277.
3D structure databases
ProteinModelPortal	Q86X76.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86X76. 1 interaction.
MINT	MINT-1194030.
STRING	9606.ENSP00000356988.
PTM databases
PhosphoSite	Q86X76.
Polymorphism databases
DMDM	51704324.
Proteomic databases
PaxDb	Q86X76.
PRIDE	Q86X76.
Protocols and materials databases
DNASU	4817.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368007; ENSP00000356986; ENSG00000158793. ENST00000368009; ENSP00000356988; ENSG00000158793. ENST00000392190; ENSP00000376028; ENSG00000158793.
GeneID	4817.
KEGG	hsa:4817.
UCSC	uc001fxv.2. human. uc010pka.2. human.
Organism-specific databases
CTD	4817.
GeneCards	GC01P161087.
HGNC	HGNC:7828. NIT1.
HPA	HPA006657.
MIM	604618. gene.
neXtProt	NX_Q86X76.
PharmGKB	PA31636.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0388.
HOGENOM	HOG000222700.
HOVERGEN	HBG052628.
InParanoid	Q86X76.
KO	K01506.
OMA	STPDKEQ.
OrthoDB	EOG42RD7M.
PhylomeDB	Q86X76.
Enzyme and pathway databases
BRENDA	3.5.5.1. 2681.
Gene expression databases
ArrayExpress	Q86X76.
Bgee	Q86X76.
CleanEx	HS_NIT1.
Genevestigator	Q86X76.
GermOnline	ENSG00000158793. Homo sapiens.
Family and domain databases
Gene3D	3.60.110.10. 1 hit.
InterPro	IPR003010. C-N_Hydrolase. IPR001110. UPF0012_CS. [Graphical view]
Pfam	PF00795. CN_hydrolase. 1 hit. [Graphical view]
SUPFAM	SSF56317. Ntlse/CNhydtse. 1 hit.
PROSITE	PS50263. CN_HYDROLASE. 1 hit. PS01227. UPF0012. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4817.
NextBio	18562.
SOURCE	Search...

Entry information

Entry name

NIT1_HUMAN

Accession

Primary (citable) accession number: Q86X76
Secondary accession number(s): B1AQP3, D3DVF4, O76091

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2004
Last sequence update:	August 31, 2004
Last modified:	May 1, 2013
This is version 85 of the entry and version 2 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.