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Protein

NHL repeat-containing protein 2

Gene

NHLRC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
NHL repeat-containing protein 2
Gene namesi
Name:NHLRC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:24731. NHLRC2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134883896.

Polymorphism and mutation databases

BioMutaiNHLRC2.
DMDMi74762548.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 726726NHL repeat-containing protein 2PRO_0000313808Add
BLAST

Proteomic databases

EPDiQ8NBF2.
MaxQBiQ8NBF2.
PaxDbiQ8NBF2.
PRIDEiQ8NBF2.

PTM databases

iPTMnetiQ8NBF2.
PhosphoSiteiQ8NBF2.

Expressioni

Gene expression databases

BgeeiQ8NBF2.
CleanExiHS_NHLRC2.
GenevisibleiQ8NBF2. HS.

Organism-specific databases

HPAiHPA038493.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP76Q8TAP63EBI-10269163,EBI-742887

Protein-protein interaction databases

BioGridi131892. 12 interactions.
IntActiQ8NBF2. 2 interactions.
STRINGi9606.ENSP00000358307.

Structurei

3D structure databases

ProteinModelPortaliQ8NBF2.
SMRiQ8NBF2. Positions 53-226, 411-443, 479-512.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 200158ThioredoxinPROSITE-ProRule annotationAdd
BLAST
Repeati212 – 25443NHL 1Add
BLAST
Repeati265 – 30743NHL 2Add
BLAST
Repeati335 – 36935NHL 3Add
BLAST
Repeati409 – 43931NHL 4Add
BLAST
Repeati461 – 50545NHL 5Add
BLAST
Repeati518 – 56245NHL 6Add
BLAST

Sequence similaritiesi

Contains 6 NHL repeats.PROSITE-ProRule annotation
Contains 1 thioredoxin domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410ITFZ. Eukaryota.
ENOG410XTIR. LUCA.
GeneTreeiENSGT00390000015483.
HOGENOMiHOG000229147.
HOVERGENiHBG059736.
InParanoidiQ8NBF2.
OMAiYCCINCL.
OrthoDBiEOG718KDF.
PhylomeDBiQ8NBF2.
TreeFamiTF323628.

Family and domain databases

Gene3Di2.120.10.30. 1 hit.
3.40.30.10. 1 hit.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR001258. NHL_repeat.
IPR013017. NHL_repeat_subgr.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF01436. NHL. 3 hits.
PF13905. Thioredoxin_8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS51125. NHL. 4 hits.
PS51352. THIOREDOXIN_2. 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: Q8NBF2-1) [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
MAAPGGRGRS LSGLLPAQTS LEYALLDAVT QQEKDSLVYQ YLQKVDGWEQ
60 70 80 90 100
DLSVPEFPEG LEWLNTEEPI SVYKDLCGKI VVLDFFTYCC INCIHLLPDL
110 120 130 140 150
HALEHTYSDK DGLLIIGVHS AKFPNEKVLD NIKSAVLRYN ITHPMVNDAD
160 170 180 190 200
ASLWQELEVS CWPTLVILGP RGNMLFSLIG EGHKDKLFLY TSIALKYYKD
210 220 230 240 250
RGQIRDNKIG IKLYKDSLPP SPLLFPGKVT VDQVTDRLVI ADTGHHRILV
260 270 280 290 300
VWKNGQIQYS IGGPNPGRKD GIFSESTFNS PQGVAIMNNI IYVADTENHL
310 320 330 340 350
IRKIDLEAEK VSTVAGIGIQ GTDKEGGAKG EQQPISSPWD VVFGTSGSEV
360 370 380 390 400
QRGDILWIAM AGTHQIWALL LDSGKLPKKN ELTKGTCLRF AGSGNEENRN
410 420 430 440 450
NAYPHKAGFA QPSGLSLASE DPWSCLFVAD SESSTVRTVS LKDGAVKHLV
460 470 480 490 500
GGERDPMNLF AFGDVDGVGI NAKLQHPLGV TWDKKRNLLY VADSYNHKIK
510 520 530 540 550
VVDPKTKNCT TLAGTGDTNN VTSSSFTEST FNEPGGLCIG ENGELLYVAD
560 570 580 590 600
TNNHQIKVMD LETKMVSVLP IFRSENAVVD GPFLVEKQKT LPKLPKSAPS
610 620 630 640 650
IRLSPVTACA GQTLQFKLRL DLPSGSKLTE GVSSCWFLTA EGNEWLLQGQ
660 670 680 690 700
IAAGDIENIS SQPTISLQIP DDCLSLEAIV SVSVFLYYCS ADSSACMMKA
710 720
ILFSQPLQIT DTQQGCIAPV ELRYVF
Length:726
Mass (Da):79,444
Last modified:October 1, 2002 - v1
Checksum:iFB0EF710BBB2E3B6
GO
Isoform 2 (identifier: Q8NBF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-359: Missing.

Note: No experimental confirmation available.
Show »
Length:367
Mass (Da):39,697
Checksum:iF413AFA4F7F8D016
GO

Sequence cautioni

The sequence BAC05316.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti216 – 2161D → N in BAC05316 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti314 – 3141V → I.
Corresponds to variant rs7913176 [ dbSNP | Ensembl ].
VAR_037749

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 359359Missing in isoform 2. 1 PublicationVSP_030153Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090631 mRNA. Translation: BAC03493.1.
AK098487 mRNA. Translation: BAC05316.1. Different initiation.
AL627429, AL162407, AL592546 Genomic DNA. Translation: CAH73013.1.
AL162407, AL592546, AL627429 Genomic DNA. Translation: CAH73301.1.
AL592546, AL162407, AL627429 Genomic DNA. Translation: CAI12636.1.
BC032598 mRNA. Translation: AAH32598.1.
CCDSiCCDS7585.1. [Q8NBF2-1]
RefSeqiNP_940916.2. NM_198514.3. [Q8NBF2-1]
UniGeneiHs.369924.
Hs.594372.

Genome annotation databases

EnsembliENST00000369301; ENSP00000358307; ENSG00000196865. [Q8NBF2-1]
GeneIDi374354.
KEGGihsa:374354.
UCSCiuc001lax.3. human. [Q8NBF2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090631 mRNA. Translation: BAC03493.1.
AK098487 mRNA. Translation: BAC05316.1. Different initiation.
AL627429, AL162407, AL592546 Genomic DNA. Translation: CAH73013.1.
AL162407, AL592546, AL627429 Genomic DNA. Translation: CAH73301.1.
AL592546, AL162407, AL627429 Genomic DNA. Translation: CAI12636.1.
BC032598 mRNA. Translation: AAH32598.1.
CCDSiCCDS7585.1. [Q8NBF2-1]
RefSeqiNP_940916.2. NM_198514.3. [Q8NBF2-1]
UniGeneiHs.369924.
Hs.594372.

3D structure databases

ProteinModelPortaliQ8NBF2.
SMRiQ8NBF2. Positions 53-226, 411-443, 479-512.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131892. 12 interactions.
IntActiQ8NBF2. 2 interactions.
STRINGi9606.ENSP00000358307.

PTM databases

iPTMnetiQ8NBF2.
PhosphoSiteiQ8NBF2.

Polymorphism and mutation databases

BioMutaiNHLRC2.
DMDMi74762548.

Proteomic databases

EPDiQ8NBF2.
MaxQBiQ8NBF2.
PaxDbiQ8NBF2.
PRIDEiQ8NBF2.

Protocols and materials databases

DNASUi374354.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369301; ENSP00000358307; ENSG00000196865. [Q8NBF2-1]
GeneIDi374354.
KEGGihsa:374354.
UCSCiuc001lax.3. human. [Q8NBF2-1]

Organism-specific databases

CTDi374354.
GeneCardsiNHLRC2.
HGNCiHGNC:24731. NHLRC2.
HPAiHPA038493.
neXtProtiNX_Q8NBF2.
PharmGKBiPA134883896.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITFZ. Eukaryota.
ENOG410XTIR. LUCA.
GeneTreeiENSGT00390000015483.
HOGENOMiHOG000229147.
HOVERGENiHBG059736.
InParanoidiQ8NBF2.
OMAiYCCINCL.
OrthoDBiEOG718KDF.
PhylomeDBiQ8NBF2.
TreeFamiTF323628.

Miscellaneous databases

GenomeRNAii374354.
PROiQ8NBF2.

Gene expression databases

BgeeiQ8NBF2.
CleanExiHS_NHLRC2.
GenevisibleiQ8NBF2. HS.

Family and domain databases

Gene3Di2.120.10.30. 1 hit.
3.40.30.10. 1 hit.
InterProiIPR011042. 6-blade_b-propeller_TolB-like.
IPR001258. NHL_repeat.
IPR013017. NHL_repeat_subgr.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF01436. NHL. 3 hits.
PF13905. Thioredoxin_8. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS51125. NHL. 4 hits.
PS51352. THIOREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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] (ISOFORM 1).
    Tissue: Gastric mucosa.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [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] (ISOFORM 2).
    Tissue: Uterus.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiNHLC2_HUMAN
AccessioniPrimary (citable) accession number: Q8NBF2
Secondary accession number(s): Q8N1H1, Q8N5A6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: June 8, 2016
This is version 129 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. 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.