1. Gene
  2. CALB1 - calbindin 1 Gene

CALB1 - calbindin 1 Gene

中文名称:钙结合蛋白 1

种属: Homo sapiens

同用名: CALB; D-28K

基因 ID: 793 | 基因类型: protein coding

关于 CALB1

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:90,058,608-90,082,879 (from NCBI)

This gene has 11 transcripts (splice variants), 163 orthologues and 2 paralogues. Restricted expression toward kidney (RPKM 156.4).

功能概要

由该基因编码的蛋白质是钙结合蛋白超家族的成员,包括钙调蛋白和肌钙蛋白 C。最初被描述为 27 kDa 的蛋白质,现在已知是 28 kDa 的蛋白质。它包含四个活性钙结合域,并有两个被认为已失去钙结合能力的修饰域。这种蛋白质被认为在刺激谷氨酸受体时缓冲钙的进入。在亨廷顿病患者中注意到这种蛋白质的消耗。[RefSeq 提供,2015 年 1 月]

The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes Calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]

CALB1 基因产物(2)

mRNA Protein Name
NM_001366795.1 NP_001353724.1 calbindin isoform 2
NM_004929.4 NP_004920.1 calbindin isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
30289411 GOA
enables calcium ion binding IMP
IMP: 通过突变表型推断
18359862 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16763551 GOA
enables zinc ion binding IMP
IMP: 通过突变表型推断
18359862 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in long-term memory IMP
IMP: 通过突变表型推断
22796338 GOA
involved in short-term memory IMP
IMP: 通过突变表型推断
22796338 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon IDA
IDA: 通过直接分析推断
22796338 GOA
located in dendrite IDA
IDA: 通过直接分析推断
22796338 GOA
located in neuronal cell body IDA
IDA: 通过直接分析推断
22796338 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16928804 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CALB1 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (16 - 41)

EF-hand_7

EF-hand_7: EF-hand domain pair (106 - 170)

EF-hand_6

EF-hand_6: EF-hand domain (190 - 216)

  • 0
  • 100
  • 200
  • 261 a.a.
蛋白主名 其他名称

calbindin

RTVL-H protein

关联疾病

疾病名称 别名
Blessig'S Cysts

Microcystoid Retinal Degeneration

Blessig Cysts

Iwanoff'S Cysts

Microcystoid Degeneration Of Retina

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Breast Fibrosarcoma

Fibrosarcoma Of The Breast

Ulnar Nerve Lesion

Lesion Of Ulnar Nerve

Mononeuritis Ulnar Nerve

Tardy Ulnar Nerve Palsy

Placental Insufficiency

Uteroplacental Vascular Insufficiency

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Sodoku Disease

Spirillosis

Sodoku

Spirillary Fever

Rat-Bite Fever

Rat-Bite Fever Due To Spirillum Minus

Spirillary Rat-Bite Fever

Sokosho

Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus

Ocular Nystagmus

Searching Eye Movements

Nystagmus, Pathologic

Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders

Nephrotic Syndrome, Type 10

NPHS10

Nephrotic Syndrome Type 10

Idiopathic Steroid-Sensitive Nephrotic Syndrome

Nephrotic Syndrome 10

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Temporal Lobe Neoplasm

Neoplasm Of Temporal Lobe

Malignant Neoplasm Of Temporal Lobe

Tumor Of Temporal Lobe

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Spinocerebellar Ataxia 38

Spinocerebellar Ataxia Type 38

SCA38

Ataxia, Spinocerebellar, Type 38

Granulomatous Endometritis
Wernicke-Korsakoff Syndrome

Korsakoff Syndrome

Transketolase Defect

Korsakoff'S Syndrome

Alcohol-Induced Encephalopathy

Korsakoff'S Psychosis

Korsakov Psychosis

Korsakov'S Psychosis

Alcohol Induced Encephalopathy

Korsakoff Disease

Korsakoff Psychosis

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Thiamine Deficiency Disease
Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Schizophrenia 12

Sczd12

Schizophrenia Susceptibility Locus, Chromosome 1p-Related

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Speech Disorder

Speech Disorders

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus CALB1 VGNC VGNC:60317
Mus musculus CALB1 MGD MGI:88248
Canis familiaris CALB1 VGNC VGNC:38660
Bos taurus CALB1 VGNC VGNC:26700
Rattus norvegicus CALB1 RGD RGD:69340
Macaca mulatta CALB1 VGNC VGNC:70514
Others CALB1 NCBI