Reviewed, UniProtKB/Swiss-Prot Q13075 (BIRC1_HUMAN)

Names and origin

Protein names

Recommended name:
    Baculoviral IAP repeat-containing protein 1
Alternative name(s):
    Neuronal apoptosis inhibitory protein

Gene names

Name:	NAIP
Synonyms:	BIRC1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	1403 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Prevents motor-neuron apoptosis induced by a variety of signals. Ref.6
Tissue specificity	Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.
Involvement in disease	Mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy (SMA) leading to the hypothesis that mutations in the NAIP locus may contribute to the SMA phenotype.
Sequence similarities	Contains 3 BIR repeats. Contains 1 NACHT domain.
Sequence caution	The sequence AAC62261.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Apoptosis
Coding sequence diversity	Polymorphism
Domain	Repeat
Ligand	Metal-binding Zinc
Technical term	3D-structure
Gene Ontology (GO)
Biological process	anti-apoptosis Ref.6 Traceable author statement. Source: ProtInc apoptosis Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	intracellular Inferred from electronic annotation. Source: InterPro
Molecular function	nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro nucleotide binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1403

1403

Baculoviral IAP repeat-containing protein 1

PRO_0000122341

Regions

Repeat

60 – 127

68

BIR 1

Repeat

159 – 227

69

BIR 2

Repeat

278 – 345

68

BIR 3

Domain

464 – 758

295

NACHT

Sites

Metal binding

315

1

Zinc By similarity

Metal binding

318

1

Zinc By similarity

Metal binding

335

1

Zinc By similarity

Metal binding

342

1

Zinc By similarity

Natural variations

Natural variant

535

1

V → M Ref.1 Ref.2 Ref.3

VAR_026477

Experimental info

Sequence conflict

386 – 387

2

VP → ST in AAA64504. Ref.4

Sequence conflict

553

1

Y → H in AAA64504. Ref.4

Sequence conflict

567 – 568

2

IQ → FK in BAD92360. Ref.5

Sequence conflict

919

1

P → S in BAD92360. Ref.5

Sequence conflict

1066

1

S → T in BAD92360. Ref.5

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1403

Helix Strand Turn

Details...

Helix

159 – 164

6

Helix

165 – 168

4

Helix

171 – 173

3

Helix

178 – 183

6

Beta strand

186 – 188

3

Beta strand

195 – 197

3

Turn

198 – 200

3

Beta strand

203 – 206

4

Helix

213 – 220

8

Helix

225 – 231

7

Sequences

	Sequence		Length	Mass (Da)
	Q13075-1 [UniParc]. Last modified May 30, 2006. Version 3. Checksum: C1CE163D55900C6D	FASTA	1,403	159,582
	10 20 30 40 50 60 MATQQKASDE RISQFDHNLL PELSALLGLD AVQLAKELEE EEQKERAKMQ KGYNSQMRSE 70 80 90 100 110 120 AKRLKTFVTY EPYSSWIPQE MAAAGFYFTG VKSGIQCFCC SLILFGAGLT RLPIEDHKRF 130 140 150 160 170 180 HPDCGFLLNK DVGNIAKYDI RVKNLKSRLR GGKMRYQEEE ARLASFRNWP FYVQGISPCV 190 200 210 220 230 240 LSEAGFVFTG KQDTVQCFSC GGCLGNWEEG DDPWKEHAKW FPKCEFLRSK KSSEEITQYI 250 260 270 280 290 300 QSYKGFVDIT GEHFVNSWVQ RELPMASAYC NDSIFAYEEL RLDSFKDWPR ESAVGVAALA 310 320 330 340 350 360 KAGLFYTGIK DIVQCFSCGG CLEKWQEGDD PLDDHTRCFP NCPFLQNMKS SAEVTPDLQS 370 380 390 400 410 420 RGELCELLET TSESNLEDSI AVGPIVPEMA QGEAQWFQEA KNLNEQLRAA YTSASFRHMS 430 440 450 460 470 480 LLDISSDLAT DHLLGCDLSI ASKHISKPVQ EPLVLPEVFG NLNSVMCVEG EAGSGKTVLL 490 500 510 520 530 540 KKIAFLWASG CCPLLNRFQL VFYLSLSSTR PDEGLASIIC DQLLEKEGSV TEMCVRNIIQ 550 560 570 580 590 600 QLKNQVLFLL DDYKEICSIP QVIGKLIQKN HLSRTCLLIA VRTNRARDIR RYLETILEIK 610 620 630 640 650 660 AFPFYNTVCI LRKLFSHNMT RLRKFMVYFG KNQSLQKIQK TPLFVAAICA HWFQYPFDPS 670 680 690 700 710 720 FDDVAVFKSY MERLSLRNKA TAEILKATVS SCGELALKGF FSCCFEFNDD DLAEAGVDED 730 740 750 760 770 780 EDLTMCLMSK FTAQRLRPFY RFLSPAFQEF LAGMRLIELL DSDRQEHQDL GLYHLKQINS 790 800 810 820 830 840 PMMTVSAYNN FLNYVSSLPS TKAGPKIVSH LLHLVDNKES LENISENDDY LKHQPEISLQ 850 860 870 880 890 900 MQLLRGLWQI CPQAYFSMVS EHLLVLALKT AYQSNTVAAC SPFVLQFLQG RTLTLGALNL 910 920 930 940 950 960 QYFFDHPESL SLLRSIHFPI RGNKTSPRAH FSVLETCFDK SQVPTIDQDY ASAFEPMNEW 970 980 990 1000 1010 1020 ERNLAEKEDN VKSYMDMQRR ASPDLSTGYW KLSPKQYKIP CLEVDVNDID VVGQDMLEIL 1030 1040 1050 1060 1070 1080 MTVFSASQRI ELHLNHSRGF IESIRPALEL SKASVTKCSI SKLELSAAEQ ELLLTLPSLE 1090 1100 1110 1120 1130 1140 SLEVSGTIQS QDQIFPNLDK FLCLKELSVD LEGNINVFSV IPEEFPNFHH MEKLLIQISA 1150 1160 1170 1180 1190 1200 EYDPSKLVKL IQNSPNLHVF HLKCNFFSDF GSLMTMLVSC KKLTEIKFSD SFFQAVPFVA 1210 1220 1230 1240 1250 1260 SLPNFISLKI LNLEGQQFPD EETSEKFAYI LGSLSNLEEL ILPTGDGIYR VAKLIIQQCQ 1270 1280 1290 1300 1310 1320 QLHCLRVLSF FKTLNDDSVV EIAKVAISGG FQKLENLKLS INHKITEEGY RNFFQALDNM 1330 1340 1350 1360 1370 1380 PNLQELDISR HFTECIKAQA TTVKSLSQCV LRLPRLIRLN MLSWLLDADD IALLNVMKER 1390 1400 HPQSKYLTIL QKWILPFSPI IQK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy." Roy N., Mahadevan M.S., McLean M., Shutler G., Yaraghi Z., Farahini R., Baird S., Besner-Johnston A., Lefebvre C., Kang X., Salih M., Aubry H., Tamai K., Guan X., Ioannou P., Crawford T.O., de Jong P.J., Surh L. , Ikeda J., Korneluk R.G., Mackenzie A. Cell 80:167-178(1995) [PubMed: 7813013] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-535. Tissue: Fetal brain.
[2]	"Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP." Chen Q., Baird S.D., Mahadevan M., Besner-Johnston A., Farahani R., Xuan J.-Y., Kang X., Lefebvre C., Ikeda J.-E., Korneluk R.G., MacKenzie A.E. Genomics 48:121-127(1998) [PubMed: 9503025] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SEQUENCE REVISION, VARIANT MET-535. Tissue: Brain.
[3]	"The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M. Nature 431:268-274(2004) [PubMed: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-535.
[4]	"A provisional transcript map of the spinal muscular atrophy (SMA) critical region." van der Steege G., Draaijers T.G., Grootscholten P.M., Osinga J., Anzevino R., Velona I., Den Dunnen J.T., Scheffer H., Brahe C., van Ommen G.J.B., Buys C.H.C.M. Eur. J. Hum. Genet. 3:87-95(1995) [PubMed: 7552146] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 386-623. Tissue: Pre-B cell.
[5]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 567-1403. Tissue: Brain.
[6]	"Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes." Liston P., Roy N., Tamai K., Lefebvre C., Baird S., Cherton-Horvat G., Farahani R., McLean M., Ikeda J., Mackenzie A., Korneluk R.G. Nature 379:349-353(1996) [PubMed: 8552191] [Abstract] Cited for: FUNCTION. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

U19251 mRNA. Translation: AAC52045.1.
U80017 Genomic DNA. Translation: AAC52047.1.
AC005031 Genomic DNA. Translation: AAC62261.1. Sequence problems.
AC044797 Genomic DNA. No translation available.
U21913 mRNA. Translation: AAA64504.1.
AB209123 mRNA. Translation: BAD92360.1.

IPI

IPI00011547.

RefSeq

NP_004527.2.

UniGene

Hs.654500
Hs.658700

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2VM5	X-ray	1.80	A	141-244	[»]

ModBase

Search...

Proteomic databases

PRIDE

Q13075.

Genome annotation databases

Ensembl

ENSG00000081770. Homo sapiens. [Contig view]

GeneID

4671.

KEGG

hsa:4671.

Organism-specific databases

GeneCards

GC05M070301.

H-InvDB

HIX0057554.

HGNC

HGNC:7634. NAIP.

MIM

600355. gene.

Orphanet

70. Proximal spinal muscular atrophy.
83330. Proximal spinal muscular atrophy, type 1.
1141. Spinal muscular atrophy - arthrogryposis.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q13075.

HOVERGEN

Q13075.

OMA

Q13075. KSQAPTI.

Gene expression databases

Bgee

Q13075.

CleanEx

HS_NAIP.

GermOnline

ENSG00000081770. Homo sapiens.

Family and domain databases

InterPro

IPR003593. ATPase_AAA+_core.
IPR007111. NACHT_NTPase.
IPR001370. Prot_inh_I32_IAP.
[Graphical view]

Pfam

PF00653. BIR. 3 hits.
PF05729. NACHT. 1 hit.
[Graphical view]

SMART

SM00382. AAA. 1 hit.
SM00238. BIR. 3 hits.
[Graphical view]

PROSITE

PS01282. BIR_REPEAT_1. 3 hits.
PS50143. BIR_REPEAT_2. 3 hits.
PS50837. NACHT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

18000.

SOURCE

Search...

Entry information

Entry name

BIRC1_HUMAN

Accession

Primary (citable) accession number: Q13075
Secondary accession number(s): O75857 , Q13730, Q59GI6, Q99796

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 30, 2006
Last modified:	June 16, 2009
This is version 74 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)